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890233009: Autosomal dominant Robinow syndrome (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4011661016 Autosomal dominant Robinow syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4011663018 Autosomal dominant Robinow syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4011662011 The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4011664012 The more common type of Robinow syndrome characterised by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4837491000052117 autosomalt dominant Robinows syndrom sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant Robinow syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Autosomal dominant Robinow syndrome (disorder) Is a Robinow syndrome true Inferred relationship Some
Autosomal dominant Robinow syndrome (disorder) Clinical course Progressive (qualifier value) false Inferred relationship Some 1
Autosomal dominant Robinow syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Autosomal dominant Robinow syndrome (disorder) Finding site Skeletal system structure false Inferred relationship Some 2
Autosomal dominant Robinow syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal dominant Robinow syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Autosomal dominant Robinow syndrome (disorder) Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
Autosomal dominant Robinow syndrome (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 3
Autosomal dominant Robinow syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal dominant Robinow syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Autosomal dominant Robinow syndrome (disorder) Finding site Bone structure of spine false Inferred relationship Some 4
Autosomal dominant Robinow syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 4
Autosomal dominant Robinow syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Autosomal dominant Robinow syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Autosomal dominant Robinow syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Autosomal dominant Robinow syndrome (disorder) Finding site Face structure true Inferred relationship Some 5
Autosomal dominant Robinow syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 5
Autosomal dominant Robinow syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Autosomal dominant Robinow syndrome (disorder) Interprets Height / growth measure false Inferred relationship Some 6
Autosomal dominant Robinow syndrome (disorder) Interprets Limb length true Inferred relationship Some 6
Autosomal dominant Robinow syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 6
Autosomal dominant Robinow syndrome (disorder) Finding site Bone structure of extremity true Inferred relationship Some 2
Autosomal dominant Robinow syndrome (disorder) Occurrence Congenital true Inferred relationship Some 7
Autosomal dominant Robinow syndrome (disorder) Finding site External genitalia structure true Inferred relationship Some 7
Autosomal dominant Robinow syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 7
Autosomal dominant Robinow syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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