782820003: Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2023. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3756031012	Spondylometaphyseal dysplasia Czarny Ratajczak type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756032017	Spondylometaphyseal dysplasia Czarny Ratajczak type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3756026010	A rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3756028011	A rare primary bone dysplasia disorder characterised by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalised metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying), which are more severe in the femur and forearm bones than the metacarpals and phalanges and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions and severe platyspondyly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4343851000052119	spondylometafyseal dysplasi, Czarny Ratajczak-typ	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Reference Sets

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