722111004: Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Jun 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3330737013	This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330735017	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330736016	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3445941001000110	Ichthyose-Hypotrichose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

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