FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

838441009: syndroom van verstandelijke beperking, geadduceerde digiti I, schuifelende gang en afasie (aandoening)


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
10970591000146113 MASA-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11334811000146110 syndroom van verstandelijke handicap, geadduceerde duimen, schuifelend looppatroon en afasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11334821000146117 syndroom van mentale retardatie, geadduceerde duimen, schuifelende gang en afasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
11334841000146111 syndroom van verstandelijke beperking, geadduceerde duimen, schuifelende gang en afasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12020091000146119 syndroom van verstandelijke beperking, geadduceerde digiti I, schuifelende gang en afasie (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12125681000146113 syndroom van verstandelijke beperking, geadduceerde digiti I, schuifelende gang en afasie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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 Is a Congenital abnormal shape of digit true Inferred relationship Some
MASA syndrome Is a Congenital malformation of thumb (disorder) true Inferred relationship Some
MASA syndrome Is a Deformity of thumb true Inferred relationship Some
MASA syndrome Is a L1 syndrome true Inferred relationship Some
MASA syndrome Is a Congenital deformity false Inferred relationship Some
MASA syndrome Occurrence Congenital true Inferred relationship Some 1
MASA syndrome Associated morphology Dilatation true Inferred relationship Some 1
MASA syndrome Finding site 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 Finding site Corpus callosum structure true Inferred relationship Some 2
MASA syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
MASA syndrome Occurrence Congenital true Inferred relationship Some 2
MASA syndrome Occurrence Congenital true Inferred relationship Some 3
MASA syndrome Associated morphology Adduction deformity true Inferred relationship Some 3
MASA syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
MASA syndrome Finding site Thumb structure true Inferred relationship Some 3
MASA syndrome Interprets Intellectual ability (observable entity) true Inferred relationship Some 4
MASA syndrome Has interpretation Impaired true Inferred relationship Some 4
MASA syndrome Interprets Adaptation behavior (observable entity) true Inferred relationship Some 5
MASA syndrome Has interpretation Impaired true Inferred relationship Some 5
MASA syndrome Is a 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

Back to Start