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838441009: Intellectual disability, aphasia, shuffling gait, adducted thumbs 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
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
5155236011 Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) en Fully specified name 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
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
5155236011 Intellectual disability, aphasia, shuffling gait, adducted thumbs syndrome (disorder) en Fully specified name 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
6387671000241117 syndrome de déficience intellectuelle, pouces en adduction, démarche trainante et aphasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387681000241115 syndrome de déficience intellectuelle, pouces en adduction, brachybasie et aphasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387691000241118 syndrome MASA (mental retardation, adducted thumbs, shuffling gait, aphasia syndrome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387671000241117 syndrome de déficience intellectuelle, pouces en adduction, démarche trainante et aphasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387681000241115 syndrome de déficience intellectuelle, pouces en adduction, brachybasie et aphasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6387691000241118 syndrome MASA (mental retardation, adducted thumbs, shuffling gait, aphasia syndrome) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
MASA syndrome Is a Congenital abnormal shape of digit true Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Is a Congenital malformation of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Is a Deformity of thumb true Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Is a L1 syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
MASA syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
MASA syndrome Associated morphology Dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 1
MASA syndrome Finding site Structure of brain cerebrospinal fluid pathway (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
MASA syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
MASA syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Finding site Corpus callosum structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
MASA syndrome Associated morphology Adduction deformity true Inferred relationship Existential restriction modifier (core metadata concept) 3
MASA syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
MASA syndrome Finding site Thumb structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
MASA syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
MASA syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
MASA syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 5
MASA syndrome Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
MASA syndrome Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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