721224008: Holmes-Gang-syndroom (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3324667013 Holmes Gang syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3324668015 Holmes Gang syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

6796301000146119 syndroom van Holmes-Gang nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10668051000146117 Holmes-Gang-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10668061000146119 Holmes-Gang-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3324670012 Holmes Gang syndrome is an X-linked mental retardation syndrome that was first described in 1984 in three males from two generations of the same family. The syndrome has characteristics of microcephaly, a large anterior fontanelle, characteristic facies (short nose, anteverted nares, epicanthal folds), club-foot deformity and delayed psychomotor development. One of the affected males also had renal hypoplasia/dysplasia. All three patients died during infancy. The syndrome is caused by mutations in the ATRX gene (Xq13.3). Inheritance is X-linked recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Holmes-Gang-syndroom	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Some
Holmes-Gang-syndroom	Is a	mentale retardatie	false	Inferred relationship	Some
Holmes-Gang-syndroom	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Holmes-Gang-syndroom	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Holmes-Gang-syndroom	Occurrence	Congenital	false	Inferred relationship	Some	1
Holmes-Gang-syndroom	Finding site	Face structure	false	Inferred relationship	Some	1
Holmes-Gang-syndroom	Is a	Intellectual disability	false	Inferred relationship	Some
Holmes-Gang-syndroom	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Holmes-Gang-syndroom	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Holmes-Gang-syndroom	Is a	Developmental hereditary disorder	false	Inferred relationship	Some

Inbound Relationships

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Active

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)