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


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644026015 Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644027012 Proud syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644028019 Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644029010 Proud Levine Carpenter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644030017 Corpus callosum agenesis, abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404212010 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by 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 (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404213017 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterised by 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 (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644025016 Agenesis of corpus callosum and abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644026015 Microcephaly, corpus callosum agenesis, abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644027012 Proud syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644028019 Agenesis of corpus callosum and abnormal genitalia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3644029010 Proud Levine Carpenter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3644030017 Corpus callosum agenesis, abnormal genitalia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5404212010 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by 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 (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404213017 Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterised by 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 (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3441491001000114 Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
871511000172118 syndrome d'ACC(agénésie du corps calleux)-anomalies génitales fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920231000172110 syndrome d'agénésie du corps calleux-anomalies génitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
871511000172118 syndrome d'ACC(agénésie du corps calleux)-anomalies génitales fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
920231000172110 syndrome d'agénésie du corps calleux-anomalies génitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3441491001000114 Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Agenesis of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Genitourinary congenital anomalies true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Finding site Structure of genitourinary system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Finding site Entire corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Finding site Structure of genitourinary system (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Finding site Entire corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Agenesis of corpus callosum and abnormal genitalia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Agenesis of corpus callosum and abnormal genitalia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum and abnormal genitalia syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum and abnormal genitalia syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Agenesis of corpus callosum and abnormal genitalia syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 4
Agenesis of corpus callosum and abnormal genitalia syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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