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277922001: Aprosencephaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
414666013 Aprosencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
671015014 Aprosencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2230461000005119 Aprosencefali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Aprosencephaly Is a Abnormality of neurogenesis false Inferred relationship Some
Aprosencephaly Occurrence Congenital false Inferred relationship Some
Aprosencephaly Finding site Brain structure false Inferred relationship Some 1
Aprosencephaly Is a Congenital anomaly of brain false Inferred relationship Some
Aprosencephaly Associated morphology kongenit anomali false Inferred relationship Some 1
Aprosencephaly Associated morphology kongenit anomali false Inferred relationship Some 1
Aprosencephaly Finding site Brain structure false Inferred relationship Some 1
Aprosencephaly Occurrence Congenital true Inferred relationship Some 2
Aprosencephaly Associated morphology dysgenese false Inferred relationship Some 2
Aprosencephaly Finding site Brain structure false Inferred relationship Some 2
Aprosencephaly Occurrence Congenital true Inferred relationship Some 1
Aprosencephaly Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Aprosencephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Aprosencephaly Finding site Structure of diencephalon true Inferred relationship Some 1
Aprosencephaly Is a A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies. true Inferred relationship Some
Aprosencephaly Finding site Structure of telencephalon (body structure) true Inferred relationship Some 2
Aprosencephaly Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Aprosencephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
A rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance. Is a True Aprosencephaly Inferred relationship Some
A rare genetic non-syndromic central nervous system malformation characterized by absence of the telencephalon and absent or abnormal diencephalic structures, combined with severe abnormalities of the mesencephalon and cerebellum. Further malformations, for example of the hands and feet, have been described in addition. Is a True Aprosencephaly Inferred relationship Some

This concept is not in any reference sets

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