763797003: Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Corpus callosum agenesis, abnormal genitalia syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome

\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome

\Finding of head region\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Finding of head region\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome

\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Corpus callosum agenesis, abnormal genitalia syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Corpus callosum agenesis, abnormal genitalia syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Corpus callosum agenesis, abnormal genitalia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Congenital anomaly of corpus callosum\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital brain aplasia\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Aplasia of corpus callosum\Agenesis of corpus callosum\Corpus callosum agenesis, abnormal genitalia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Corpus callosum agenesis, abnormal genitalia syndrome

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3644025016 Agenesis of corpus callosum and abnormal genitalia syndrome en Synonym Active Case insensitive SNOMED CT core

3644026015 Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome en Synonym Active Case insensitive SNOMED CT core

3644027012 Proud syndrome en Synonym Active Case sensitive SNOMED CT core

3644028019 Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3644029010 Proud Levine Carpenter syndrome en Synonym Active Case sensitive SNOMED CT core

3644030017 Corpus callosum agenesis, abnormal genitalia syndrome en Synonym Active Case insensitive SNOMED CT core

3644031018 A rare genetic developmental defect during embryogenesis syndrome with characteristics of agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophrys) and optic atrophy have been observed. The disease is caused by mutation in the ARX gene. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Corpus callosum agenesis, abnormal genitalia syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Corpus callosum agenesis, abnormal genitalia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Corpus callosum agenesis, abnormal genitalia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Associated morphology	Agenesis	true	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	3
Corpus callosum agenesis, abnormal genitalia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Corpus callosum agenesis, abnormal genitalia syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
Corpus callosum agenesis, abnormal genitalia syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Agenesis of corpus callosum	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Corpus callosum agenesis, abnormal genitalia syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Finding site	Structure of genitourinary system	false	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Finding site	Entire corpus callosum	true	Inferred relationship	Some	2
Corpus callosum agenesis, abnormal genitalia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Corpus callosum agenesis, abnormal genitalia syndrome	Finding site	Structure of genitourinary system	true	Inferred relationship	Some	1
Corpus callosum agenesis, abnormal genitalia syndrome	Finding site	Entire corpus callosum	false	Inferred relationship	Some	1
Corpus callosum agenesis, abnormal genitalia syndrome	Associated morphology	Congenital absence	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3644025016	Agenesis of corpus callosum and abnormal genitalia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644026015	Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644027012	Proud syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644028019	Agenesis of corpus callosum and abnormal genitalia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3644029010	Proud Levine Carpenter syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3644030017	Corpus callosum agenesis, abnormal genitalia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3644031018	A rare genetic developmental defect during embryogenesis syndrome with characteristics of agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (large eyes, prominent supraorbital ridges, synophrys) and optic atrophy have been observed. The disease is caused by mutation in the ARX gene.	en	Definition	Active	Case sensitive	SNOMED CT core