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715990006: Agenesis of cerebellum and hydrocephalus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304350015 Cerebellum agenesis with hydrocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304351016 Agenesis of cerebellum and hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304352011 Agenesis of cerebellum and hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304353018 This syndrome has features of infantile hypotonia followed by onset of ataxia, cataract and intellectual deficit by preschool age. Cerebral atrophy also reported. It has been described in four patients from two families. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cerebellum agenesis with hydrocephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Cerebellum agenesis with hydrocephaly survenue (attribut) congénital true Inferred relationship Some 1
Cerebellum agenesis with hydrocephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 1
Cerebellum agenesis with hydrocephaly localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) Agenesis (morphologic abnormality) true Inferred relationship Some 2
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) dilatation true Inferred relationship Some 1
Cerebellum agenesis with hydrocephaly est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) X-linked recessive hereditary disease true Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) X-linked hereditary disease false Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) Agenesis of cerebellum true Inferred relationship Some
Cerebellum agenesis with hydrocephaly est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) Congenital absence false Inferred relationship Some 2
Cerebellum agenesis with hydrocephaly survenue (attribut) congénital true Inferred relationship Some 2
Cerebellum agenesis with hydrocephaly localisation d'une constatation (attribut) Entire cerebellum true Inferred relationship Some 2
Cerebellum agenesis with hydrocephaly morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 3
Cerebellum agenesis with hydrocephaly survenue (attribut) congénital false Inferred relationship Some 3
Cerebellum agenesis with hydrocephaly localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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