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722036008: Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3330269015 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330270019 Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3330271015 MPPH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330272010 MPPH (megalencephaly, polymicrogyria, polydactyly, hydrocephalus) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3330273017 This syndrome has characteristics of megalencephaly, polymicrogyria and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic. 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
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Entire brain false Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) dilatation true Inferred relationship Some 1
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Enlargement (morphologic abnormality) true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) structure du cerveau true Inferred relationship Some 2
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) est un(e) (attribut) microgyrie (trouble) true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) est un(e) (attribut) Macroencephaly true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) est un(e) (attribut) hydrocéphalie congénitale true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital enlargement (morphologic abnormality) false Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Entire brain false Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital smallness false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Structure of gyrus of brain (body structure) false Inferred relationship Some 5
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Structure of gyrus of brain (body structure) true Inferred relationship Some 3
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) morphologie associée (attribut) Congenital dilatation (morphologic abnormality) false Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway false Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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