View a developmental anomaly category

Developmental anomaly categoryinformation for Polytopic field defect

Description: A polytopic field defect is a pattern of anomalies derived from the disturbance of a single developmental field. Dysmorphogenitically, these anomalies are derivatives of a single malformative or disruptive process. The multiple defects of holoprosencephaly may be traced to a disturbance of precordal mesoderm, which normally migrates forward into the area anterior to the notocord and interacts with the development of the forebrain and midfacial structures.


Developmental anomalies associated with this developmental anomaly category :

Array
(
    [Dacategory] => Array
        (
            [id] => 21
            [name] => Polytopic field defect
            [description] => A polytopic field defect is a pattern of anomalies derived from the disturbance of a  single developmental field. Dysmorphogenitically, these anomalies are derivatives of a single malformative or disruptive process.
The multiple defects of holoprosencephaly may be traced to a disturbance of precordal mesoderm, which normally migrates forward into the area anterior to the notocord and interacts with the development of the forebrain and midfacial structures. 
        )

    [Thesaurus] => Array
        (
            [0] => Array
                (
                    [id] => 373
                    [name] => Heterotaxy
                    [description] =>  Heterotaxy is the misplacement of one or more organs according to the left–right axis.These so-called heterotaxic syndromes are characterized by failure of many "right-left" differentiation, leading to ambiguity in viscero-atrial situs, along with anomalies of systemic or pulmonary venous return. This term used to describe two groupings of congenital heart defects that generally involve a looping defect, dextrocardia.
 In addition to several anomalies in the heart, the liver of a person with heterotaxy is generally midline, instead of placed on one side of the body. The most significant indicator of heterotaxy is the presence of a number of small spleens, polysplenia, or the total absence of a spleen, asplenia. 
Heterotaxy is split into two types, left atrial isomerism and right atrial isomerism, sometimes called Ivemark’s Syndrome. 

 
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                    [wiki_ref] => Heterotaxy
                    [created] => 2008-06-10 14:33:47
                    [modified] => 2008-12-23 17:25:13
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [1] => Array
                (
                    [id] => 43
                    [name] => Tetralogy of Fallot
                    [description] => A combination of congenital cardiac defects consisting of pulmonary stenosis, interventricular septal defects, dextroposition of the aorta so that it overrides the interventricular septum and receives venous as well as arterial blood, and right ventricular hypertrophy.
                    [author_id] => 1
                    [topo_code] => 53
                    [category_code] => 21
                    [system_code] => 10
                    [parent_da_code] => 0
                    [adicap_ref] => 
                    [humpath_ref] => 5175
                    [omim_ref] => 187500
                    [possum_ref] => 
                    [snomed_ref] => 
                    [ICD10_ref] => Q21.3 
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                    [emedicine_ref] => 
                    [diseasesdb_ref] => 4660
                    [mesh_ref] => D013771
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                    [created] => 2008-02-22 01:00:00
                    [modified] => 2008-12-17 17:05:25
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [2] => Array
                (
                    [id] => 98
                    [name] => Polysplenia
                    [description] => A condition in which splenic tissue is divided into nearly equal masses. The condition may be related to situs inversus. Most cases are sporadic. 
.
                    [author_id] => 1
                    [topo_code] => 39
                    [category_code] => 21
                    [system_code] => 66
                    [parent_da_code] => 0
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                    [humpath_ref] => 5880
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                    [created] => 2008-03-07 01:00:00
                    [modified] => 2008-12-15 16:05:34
                    [modified_by] => 3
                    [test] => 0
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            [3] => Array
                (
                    [id] => 99
                    [name] => Microsplenia
                    [description] => Abnormal smallness of the spleen
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                    [topo_code] => 39
                    [category_code] => 21
                    [system_code] => 66
                    [parent_da_code] => 0
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                    [humpath_ref] => 13416
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                    [created] => 2008-03-07 01:00:00
                    [modified] => 2008-12-15 16:46:37
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [4] => Array
                (
                    [id] => 104
                    [name] => Anencephaly facies
                    [description] => The typical appearance of face (bathrachian phenotype)is due to absent frontal bones and shallow orbits, causing protrusion of the eyeballs(exophthalmos), hypertelorism, and palpebral fissures slanting downward.
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                    [topo_code] => 47
                    [category_code] => 21
                    [system_code] => 50
                    [parent_da_code] => 35
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                    [created] => 2008-03-07 01:00:00
                    [modified] => 2009-01-07 18:03:05
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [5] => Array
                (
                    [id] => 129
                    [name] => Hypoplastic left heart syndrome (HLHS)
                    [description] => Hypoplastic left heart syndrome (HLHS) describes a spectrum of cardiac abnormalities characterized by marked hypoplasia of the left ventricle and ascending aorta. The aortic and mitral valves are atretic, hypoplastic, or stenotic. The ventricular septum is usually intact. A large patent ductus arteriosus supplies blood to the systemic circulation. Systemic desaturation may be present because of complete mixing of pulmonary and systemic venous blood in the right atrium via an atrial septal defect or patent foramen ovale. Coarctation of the aorta commonly coexists.
While many authorities believe the cause of HLHS is unknown recent research indicates that HLHS may be due to genetic factors. There is evidence associating it with Gap junction protein, alpha 1.
Gap junction protein, alpha 1, 43kDa, also known as GJA1, is a human gene,
which is a member of the connexin gene family.





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                    [humpath_ref] => 13428
                    [omim_ref] => 241550
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                    [ICD10_ref] => Q23.4
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                    [created] => 2008-03-17 01:00:00
                    [modified] => 2008-12-29 19:46:06
                    [modified_by] => 3
                    [test] => 0
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            [6] => Array
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                    [id] => 139
                    [name] => Holoprosencephaly
                    [description] => Holoprosencephaly is the incomplete or absent division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemispheres.
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                    [topo_code] => 61
                    [category_code] => 21
                    [system_code] => 12
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                    [humpath_ref] => 1797
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                    [ICD10_ref] => Q04.2
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                    [created] => 2008-03-19 01:00:00
                    [modified] => 2008-12-05 15:22:10
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [7] => Array
                (
                    [id] => 140
                    [name] => Holoprosencephaly, lobar
                    [description] => Lobar holoprosencephaly, in which there is considerable evidence of separate brain hemispheres, is the least severe form. In some cases of lobar holoprosencephaly, the patient's brain may be nearly normal.
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                    [category_code] => 21
                    [system_code] => 12
                    [parent_da_code] => 139
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                    [created] => 2008-03-19 01:00:00
                    [modified] => 2008-12-22 20:23:24
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [8] => Array
                (
                    [id] => 432
                    [name] => Situs inversus totalis
                    [description] => The complete mirror-image reversal of the thoracic and abdominal organs in situs inversus. For all visceral organs to be mirrored, the correct term is Dextrocardia Situs Inversus Totalis.
                    [author_id] => 2
                    [topo_code] => 1
                    [category_code] => 21
                    [system_code] => 1
                    [parent_da_code] => 0
                    [adicap_ref] => 
                    [humpath_ref] => 6679
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                    [snomed_ref] => 
                    [ICD10_ref] => Q89.3 
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                    [created] => 2008-07-17 20:14:41
                    [modified] => 2008-12-23 17:57:20
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [9] => Array
                (
                    [id] => 237
                    [name] => Defects of the lower part of the sternum
                    [description] => Defects of the lower part of the sternum and deficiency of the anterior diaphragm characterized certain anterior abdominal wall defects such as incomplete forms of Cantrell’s pentalogy.
                    [author_id] => 3
                    [topo_code] => 9
                    [category_code] => 21
                    [system_code] => 44
                    [parent_da_code] => 197
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                    [created] => 2008-05-16 02:00:00
                    [modified] => 2009-01-02 15:00:11
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [10] => Array
                (
                    [id] => 238
                    [name] => Semilobar holoprosencephaly
                    [description] => In semilobar holoprosencephaly there is a small cleft representing an attempt to separate the hemispheres.
                    [author_id] => 1
                    [topo_code] => 6
                    [category_code] => 21
                    [system_code] => 1
                    [parent_da_code] => 0
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                    [created] => 2008-05-16 02:00:00
                    [modified] => 2008-12-04 17:22:57
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [11] => Array
                (
                    [id] => 257
                    [name] => Dextrocardia, isolated
                    [description] => Refers to the heart being situated on the right side of the body.The simplest type of dextrocardia is one in which the heart is a mirror image of the normal heart, and no other problems exist (isolated dextrocardia). This condition is rare. Usually in this case, the organs of the abdomen and the lungs will also be arranged in a mirror image of their normal position. For example, the liver will be on the left side instead of the right.


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                    [category_code] => 21
                    [system_code] => 46
                    [parent_da_code] => 259
                    [adicap_ref] => 
                    [humpath_ref] => 5119
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                    [ICD10_ref] => Q24.0
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                    [created] => 2008-05-23 02:00:00
                    [modified] => 2009-01-02 15:31:04
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
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            [12] => Array
                (
                    [id] => 261
                    [name] => Bilateral Right-Sidedness Sequence
                    [description] => Ivemark syndrome is a rare progressive birth defect characterized by the absence of a spleen, malformations of the cardiovascular system and abnormal displacement of internal organs.
In right isomerism, the liver is symmetrical, and each lung has three lobes and an epiarterial bronchus, (both atrial appendages are pyramidal in shape and the lungs are trilobed with short eparterial bronchi). 

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                    [humpath_ref] => 10310
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                    [created] => 2008-05-23 02:00:00
                    [modified] => 2008-12-03 16:49:53
                    [modified_by] => 3
                    [test] => 0
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            [13] => Array
                (
                    [id] => 312
                    [name] => Levocardia
                    [description] => Reversal of all of the abdominal and thoracic organs (situs inversus) except the heart, which is still in its usual location on the left ( the base-to-apex axis points to the left).
                    [author_id] => 1
                    [topo_code] => 11
                    [category_code] => 21
                    [system_code] => 46
                    [parent_da_code] => 432
                    [adicap_ref] => 
                    [humpath_ref] => 
                    [omim_ref] => 
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                    [snomed_ref] => 
                    [ICD10_ref] => Q24.1
                    [orphanet_ref] => 
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                    [wiki_ref] => 
                    [created] => 2008-05-30 02:00:00
                    [modified] => 2008-12-23 17:42:07
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [14] => Array
                (
                    [id] => 376
                    [name] => Holoprosencephaly, alobar
                    [description] => In alobar holoprosencephaly,  there is no evidence of division of cerebral cortex, i.e. a single forebrain with a single ventricle instead of two cerebral hemispheres with lateral ventricles, fusion of thalami, and only a rudimentary corpus callosum. 

                    [author_id] => 3
                    [topo_code] => 61
                    [category_code] => 21
                    [system_code] => 12
                    [parent_da_code] => 139
                    [adicap_ref] => 
                    [humpath_ref] => 
                    [omim_ref] => 
                    [possum_ref] => 
                    [snomed_ref] => 
                    [ICD10_ref] => Q04.2 
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                    [fetusnet_ref] => 
                    [wiki_ref] => 
                    [created] => 2008-06-10 16:25:20
                    [modified] => 2009-01-07 17:24:54
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [15] => Array
                (
                    [id] => 404
                    [name] => Hydranencephaly
                    [description] => Hydranencephaly is a rare condition in which the cerebral hemispheres are absent and replaced by sac (a thin pia-arachnoid membrane) filled with  clear cerebrospinal fluid.Usually the cerebellum and brainstem are formed normally, although in some cases the cerebellum may also be absent.
 
 

 






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                    [snomed_ref] => 
                    [ICD10_ref] => Q04.35
                    [orphanet_ref] => 
                    [emedicine_ref] => eMedicine radio/351 
                    [diseasesdb_ref] => DiseasesDB 31516 
                    [mesh_ref] => MeSH D006832 
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                    [created] => 2008-06-13 05:00:37
                    [modified] => 2008-12-15 18:15:23
                    [modified_by] => 3
                    [test] => 0
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            [16] => Array
                (
                    [id] => 421
                    [name] => Pentalogy of Cantrell
                    [description] => Pentalogy of Cantrell consists of an extensive defect of the thoracoabdominal wall,characterized by the association of five anomalies: omphalocele, cardiac ectopia(ectopia cordis), absence of the distal portion of the sternum, absence of the anterior diaphragm and absence of the parietal pericardium
                    [author_id] => 3
                    [topo_code] => 9
                    [category_code] => 21
                    [system_code] => 9
                    [parent_da_code] => 0
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                    [humpath_ref] => Pentalogy of Cantrell
                    [omim_ref] => 313850
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                    [diseasesdb_ref] => 32984
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                    [created] => 2008-06-20 19:53:38
                    [modified] => 2008-12-15 15:01:35
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [17] => Array
                (
                    [id] => 493
                    [name] => Rhombencephalosynapsis
                    [description] => Rhombencephalosynapsis is an uncommon malformation of the posterior fossa characterized by hypoplasia or aplasia of the vermis, fused cerebellar hemispheres and fusion or apposition of the dentate nuclei and cerebellar peduncles. 
                    [author_id] => 3
                    [topo_code] => 61
                    [category_code] => 21
                    [system_code] => 50
                    [parent_da_code] => 0
                    [adicap_ref] => 
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                    [created] => 2008-08-06 14:58:59
                    [modified] => 2008-12-19 22:26:33
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [18] => Array
                (
                    [id] => 505
                    [name] => Left-sided liver
                    [description] => Left-sided liver is usually associated with situs inversus totalis.
                    [author_id] => 3
                    [topo_code] => 36
                    [category_code] => 21
                    [system_code] => 72
                    [parent_da_code] => 432
                    [adicap_ref] => 
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                    [created] => 2008-08-06 18:49:15
                    [modified] => 2008-12-23 20:19:48
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [19] => Array
                (
                    [id] => 517
                    [name] => Rachischisis, cervical
                    [description] => This abnormality can be associated with other abnormalities such as anencephaly, encephalocele, hydrocephalus, cyclopia, ...
                    [author_id] => 3
                    [topo_code] => 65
                    [category_code] => 21
                    [system_code] => 15
                    [parent_da_code] => 0
                    [adicap_ref] => 
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                    [created] => 2008-08-07 17:22:48
                    [modified] => 2008-12-15 17:56:52
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [20] => Array
                (
                    [id] => 533
                    [name] => Left atrial isomerism
                    [description] => Left atrial isomerism, wherein both the atria have smooth walls, finger-like appendages, and absence of the pectinate muscles and sinus node.In left atrial isomerism, the infrahepatic portion of the inferior vena cava is frequently absent, and the venous return from the lower part of the body enters the superior vena cava via the azygos vein. 
Left atrial isomerism is generally associated with polysplenia. This form of heterotaxy is less severe than Ivemark’s because these multiple tiny spleens tend to do some of the work of a regular spleen. Often, ventricular septal defects and pulmonary stenosis are present.
                    [author_id] => 3
                    [topo_code] => 53
                    [category_code] => 21
                    [system_code] => 46
                    [parent_da_code] => 373
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                    [created] => 2008-08-11 20:11:48
                    [modified] => 2008-12-23 17:31:54
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [21] => Array
                (
                    [id] => 570
                    [name] => Dextroposition of stomach and pancreas
                    [description] => Associated with isomerisme syndrome
                    [author_id] => 3
                    [topo_code] => 4
                    [category_code] => 21
                    [system_code] => 4
                    [parent_da_code] => 373
                    [adicap_ref] => 
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                    [wiki_ref] => 
                    [created] => 2008-08-15 22:50:04
                    [modified] => 2009-01-02 15:47:26
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [22] => Array
                (
                    [id] => 654
                    [name] => Left side appendix
                    [description] => In rare conditions such as situs inversus, the appendix may be located in the lower left side.

                    [author_id] => 3
                    [topo_code] => 4
                    [category_code] => 21
                    [system_code] => 73
                    [parent_da_code] => 432
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                    [created] => 2008-08-29 21:40:52
                    [modified] => 2008-12-23 18:08:56
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [23] => Array
                (
                    [id] => 657
                    [name] => Sirenomelia
                    [description] => Sirenomelia or mermaid-like phenotype is one of the principal human congenital malformations that can be traced back to the stage of gastrulation. Sirenomelia is characterized by the fusion of the two hindlimbs into a single one.
                    [author_id] => 3
                    [topo_code] => 12
                    [category_code] => 21
                    [system_code] => 9
                    [parent_da_code] => 0
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                    [created] => 2008-09-02 15:26:35
                    [modified] => 2008-12-16 20:32:05
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [24] => Array
                (
                    [id] => 681
                    [name] => Left-Sidedness, bilateral
                    [description] => Bilateral "Left-Sidedness"is a complex birth defect of congenital cardiac disease associated with multiple spleens (as contrasted to accessory spleen), there is  a definite tendency for the symmetrical development of organs but with a tendency for bilateral left-sidedness or levo-isomerism.

The abnormalities assumed one of three forms as follows: (1) absence of a normal right-sided structure, (2) bilateral organs, each with the structure of a left-sided organ, or (3) excessive tissue of a left-sided organ. Thus, in polysplenia there is a tendency for (1) absence of the hepatic segment of the inferior vena cava and absence of the gallbladder, (2) two lobes in each lung with hyparterial bronchi, and (3) multiple spleens. Other noncardiac abnormalities were partial or complete abdominal heterotaxia and partial malrotation of the bowel. The cardiac malformations included dextrocardia, bilateral superior venae cavae, anomalous pulmonary venous connection with malposition of the atrial septum, and defects in the atrial septum and in the ventricular septum

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                    [category_code] => 21
                    [system_code] => 1
                    [parent_da_code] => 373
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                    [created] => 2008-09-09 17:46:09
                    [modified] => 2009-05-20 19:29:55
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [25] => Array
                (
                    [id] => 734
                    [name] => Cebocephaly
                    [description] => Cebocephaly is a very rare congenital anomaly combining alobar holoprosencephaly, ocular hypotelorism, and a proboscis-like nose with single nostril situated below incomplete or underdeveloped closely set eyes. 
                    [author_id] => 3
                    [topo_code] => 61
                    [category_code] => 21
                    [system_code] => 50
                    [parent_da_code] => 0
                    [adicap_ref] => 
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                    [wiki_ref] => 
                    [created] => 2008-10-01 21:17:58
                    [modified] => 2008-12-17 15:58:40
                    [modified_by] => 3
                    [test] => 0
                    [isFree] => 0
                )

            [26] => Array
                (
                    [id] => 853
                    [name] => Right atrial isomerism
                    [description] => Right atrial isomerism is one of the more sever heart anomalies.This form of heterotaxy is marked by multiple defects in addition to asplenia. The most prominent defect is complete atrioventricular canal defect. The septum between the ventricles usually has a large hole, allowing blood to mix. Additionally, the septum between the atria may never have formed, and the atria are generally undersized. In patients with right atrial isomerism, the right and left hepatic veins may enter the ipsilateral sides of the common atrium, remaining separate from the inferior vena caval entrance. 



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                    [category_code] => 21
                    [system_code] => 46
                    [parent_da_code] => 373
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                    [created] => 2008-12-23 17:05:53
                    [modified] => 2008-12-23 17:30:44
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                    [test] => 0
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                )

        )

)