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22764001: Metatropic dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
481421018 Metatropic dysplasia group en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481422013 Metatropic dwarfism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
481423015 Metatropic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2986044012 Metatropic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2986113017 Metatropic dwarfism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2986137017 Metatropic dwarf en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1455571000005116 Metatrofisk dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Metatropic dysplasia Is a primordial dværgvækst false Inferred relationship Some
Metatropic dysplasia Is a Osteochondrodysplasia syndrome true Inferred relationship Some
Metatropic dysplasia Is a Skeletal dysplasia true Inferred relationship Some
Metatropic dysplasia Associated morphology Dysplasia true Inferred relationship Some 1
Metatropic dysplasia Finding site Bone structure false Inferred relationship Some 2
Metatropic dysplasia Occurrence Congenital false Inferred relationship Some
Metatropic dysplasia Finding site Skeletal system structure false Inferred relationship Some 1
Metatropic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 2
Metatropic dysplasia Associated morphology Kongenit malformation false Inferred relationship Some
Metatropic dysplasia Is a Short stature disorder false Inferred relationship Some
Metatropic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 1
Metatropic dysplasia Finding site Bone structure true Inferred relationship Some 1
Metatropic dysplasia Occurrence Congenital false Inferred relationship Some 2
Metatropic dysplasia Finding site Bone structure false Inferred relationship Some 2
Metatropic dysplasia Associated morphology kongenit dysplasi false Inferred relationship Some 2
Metatropic dysplasia Occurrence Congenital true Inferred relationship Some 1
Metatropic dysplasia Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Metatropic dysplasia Is a Congenital malformation syndromes associated with short stature true Inferred relationship Some
Metatropic dysplasia Is a Congenital anomaly of skeletal bone true Inferred relationship Some
Metatropic dysplasia Interprets Height / growth measure true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Schneckenbecken dysplasia Is a True Metatropic dysplasia Inferred relationship Some
Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Is a False Metatropic dysplasia Inferred relationship Some
Parastremmatic dwarfism (disorder) Is a True Metatropic dysplasia Inferred relationship Some

This concept is not in any reference sets

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