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721224008: Holmes Gang syndrome (disorder)

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

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

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

Inbound Relationships

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Reference Sets

Concept inactivation indicator reference set

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
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