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78693004: Congenital hypoplasia of part of brain (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
130581013 Congenital hypoplasia of part of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
819661012 Congenital hypoplasia of part of brain (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5880211000241114 hypoplasie congénitale d'une partie de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


73 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypoplasia of part of brain Is a Congenital anomaly of brain false Inferred relationship Some
Congenital hypoplasia of part of brain Finding site Brain structure false Inferred relationship Some 1
Congenital hypoplasia of part of brain Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of part of brain Occurrence Congenital false Inferred relationship Some
Congenital hypoplasia of part of brain Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital hypoplasia of part of brain Associated morphology anomalie du développement false Inferred relationship Some 1
Congenital hypoplasia of part of brain Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Congenital hypoplasia of part of brain Finding site Brain part false Inferred relationship Some 1
Congenital hypoplasia of part of brain Is a Congenital malformation false Inferred relationship Some
Congenital hypoplasia of part of brain Finding site Brain part true Inferred relationship Some 1
Congenital hypoplasia of part of brain Associated morphology Congenital hypoplasia false Inferred relationship Some 1
Congenital hypoplasia of part of brain Is a Congenital hypoplasia of brain true Inferred relationship Some
Congenital hypoplasia of part of brain Occurrence Congenital false Inferred relationship Some 2
Congenital hypoplasia of part of brain Is a Congenital anomaly of nervous system of head/neck false Inferred relationship Some
Congenital hypoplasia of part of brain Associated morphology Hypoplasia false Inferred relationship Some 2
Congenital hypoplasia of part of brain Finding site Brain part false Inferred relationship Some 2
Congenital hypoplasia of part of brain Associated morphology Hypoplasia true Inferred relationship Some 1
Congenital hypoplasia of part of brain Occurrence Congenital true Inferred relationship Some 1
Congenital hypoplasia of part of brain Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cerebellar hypoplasia Is a True Congenital hypoplasia of part of brain Inferred relationship Some
Congenital hypoplasia of cerebrum Is a True Congenital hypoplasia of part of brain Inferred relationship Some
Congenital pontocerebellar hypoplasia Is a False Congenital hypoplasia of part of brain Inferred relationship Some
Hypoplasia of corpus callosum Is a False Congenital hypoplasia of part of brain Inferred relationship Some
Hypoplasia of brain gyri Is a True Congenital hypoplasia of part of brain Inferred relationship Some
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Is a False Congenital hypoplasia of part of brain Inferred relationship Some
Congenital hypoplasia of brainstem Is a True Congenital hypoplasia of part of brain Inferred relationship Some

This concept is not in any reference sets

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