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838441009: Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3896942012 MASA syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3896944013 MASA (mental retardation, adducted thumbs, shuffling gait, aphasia) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3896945014 Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3896946010 Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3896947018 Mental retardation, adducted thumbs, shuffling gait, aphasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3896943019 An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. 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
MASA syndrome est un(e) (attribut) Congenital abnormal shape of digit true Inferred relationship Some
MASA syndrome est un(e) (attribut) Congenital malformation of thumb (disorder) true Inferred relationship Some
MASA syndrome est un(e) (attribut) déformation du pouce true Inferred relationship Some
MASA syndrome est un(e) (attribut) Hypoplasia of corpus callosum and mental retardation with adducted thumbs and spasticity and hydrocephalus syndrome (disorder) true Inferred relationship Some
MASA syndrome est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
MASA syndrome survenue (attribut) congénital true Inferred relationship Some 1
MASA syndrome morphologie associée (attribut) dilatation true Inferred relationship Some 1
MASA syndrome localisation d'une constatation (attribut) Brain cerebrospinal fluid pathway true Inferred relationship Some 1
MASA syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
MASA syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
MASA syndrome localisation d'une constatation (attribut) Corpus callosum structure true Inferred relationship Some 2
MASA syndrome morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
MASA syndrome survenue (attribut) congénital true Inferred relationship Some 2
MASA syndrome survenue (attribut) congénital true Inferred relationship Some 3
MASA syndrome morphologie associée (attribut) Adduction deformity true Inferred relationship Some 3
MASA syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
MASA syndrome localisation d'une constatation (attribut) pouce true Inferred relationship Some 3
MASA syndrome est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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