733090001: Microcephalus, digital anomaly, intellectual disability syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3498728013	Microcephalus, digital anomaly, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498729017	Microcephalus, digital anomaly, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498730010	Kelly Kirson Wyatt syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499969019	Syndrome with characteristics of congenital microcephaly with a sharply sloping forehead, digital anomalies (hallux valgus, syndactyly of the toes, short fifth fingers with a single flexion crease and absence of the distal interphalangeal crease of the fourth finger) and moderate to severe intellectual deficit. Less than 10 patients have been described so far. Linkage analysis has identified a candidate region on chromosome 18 (18p11.2-q12.3). Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3957301000052113	syndrom med mikrocefali, digital anomali och intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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