722108000: Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)

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
3330723016	This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330721019	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330722014	Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
948421000172112	syndrome de nanisme ostéochondrodysplasique-surdité-rétinopathie pigmentaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
531251000274111	Osteochondrodysplastischer Kleinwuchs, Schwerhörigkeit, Retinitis pigmentosa	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3436091001000113	Kleinwuchs, osteochondrodysplastischer - Schwerhörigkeit - Retinitis pigmentosa	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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