722433005: syndroom van dyschondrosteose en nefritis (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332049010	Dyschondrosteosis and nephritis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332050010	Dyschondrosteosis and nephritis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6973141000146110	syndroom van dyschondrosteose en nefritis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6973161000146111	syndroom van dyschondrosteose en nefritis (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3332051014	The association of short stature due to mesomelic shortening of the limbs and Madelung deformity with hereditary nephritis. The syndrome was originally described in male and female members from four generations of one large kindred. The females appeared to be more severely affected than the males, with a sex ratio (female to male) of 4:1. The skeletal anomalies closely resembled those of Leri-Weill dyschondrosteosis. The mode of transmission was reported as autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Concept inactivation indicator reference set

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