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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
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
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
5817311000241117 dysostose acrale avec anomalies faciales et génitales autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5817321000241112 syndrome de Robinow autosomique dominant fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Is a Autosomal dominant hereditary disorder (disorder) true Inferred relationship Some
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Is a Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. true Inferred relationship Some
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Clinical course Progressive false Inferred relationship Some 1
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology Dysplasia true Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site Skeletal system structure false Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence Congenital true Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence Congenital false Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site Bone structure of spine false Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology Aplasia false Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence Congenital false Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence Congenital true Inferred relationship Some 5
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site Face structure true Inferred relationship Some 5
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Interprets Height / growth measure false Inferred relationship Some 6
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Interprets Limb length true Inferred relationship Some 6
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Has interpretation Below reference range true Inferred relationship Some 6
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site Bone structure of limb true Inferred relationship Some 2
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Occurrence Congenital true Inferred relationship Some 7
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Finding site External genitalia structure true Inferred relationship Some 7
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. 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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