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890237005: Autosomal recessive 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
4011671019 Autosomal recessive Robinow syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
4011672014 Autosomal recessive Robinow syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5767911000241117 syndrome de Robinow autosomique récessif fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5767931000241114 syndrome d'anomalie de segmentation costovertébrale et mésomélie fr Synonym (core metadata concept) Active Entire term 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
Autosomal recessive Robinow syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive Robinow syndrome 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
Autosomal recessive Robinow syndrome Clinical course Progressive false Inferred relationship Some 1
Autosomal recessive Robinow syndrome Associated morphology Dysplasia true Inferred relationship Some 2
Autosomal recessive Robinow syndrome Finding site Skeletal system structure false Inferred relationship Some 2
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Some 2
Autosomal recessive Robinow syndrome Finding site Musculoskeletal structure of limb false Inferred relationship Some 3
Autosomal recessive Robinow syndrome Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 3
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Some 3
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Autosomal recessive Robinow syndrome Finding site Bone structure of spine false Inferred relationship Some 4
Autosomal recessive Robinow syndrome Associated morphology Aplasia false Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence Congenital false Inferred relationship Some 4
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 4
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Some 5
Autosomal recessive Robinow syndrome Finding site Face structure true Inferred relationship Some 5
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 5
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Autosomal recessive Robinow syndrome Interprets Height / growth measure false Inferred relationship Some 6
Autosomal recessive Robinow syndrome Interprets Limb length true Inferred relationship Some 6
Autosomal recessive Robinow syndrome Has interpretation Below reference range true Inferred relationship Some 6
Autosomal recessive Robinow syndrome Finding site Bone structure of limb true Inferred relationship Some 2
Autosomal recessive Robinow syndrome Interprets Body height measure true Inferred relationship Some 8
Autosomal recessive Robinow syndrome Has interpretation Below reference range true Inferred relationship Some 8
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Some 7
Autosomal recessive Robinow syndrome Finding site External genitalia structure true Inferred relationship Some 7
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 7
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 7
Autosomal recessive Robinow syndrome Is a Congenital anomaly of rib true Inferred relationship Some
Autosomal recessive Robinow syndrome Is a Defect of vertebral segmentation true Inferred relationship Some
Autosomal recessive Robinow syndrome Is a Short stature disorder true Inferred relationship Some
Autosomal recessive Robinow syndrome Is a Finding of vertebra true Inferred relationship Some
Autosomal recessive Robinow syndrome Is a Congenital anomaly of spine true Inferred relationship Some
Autosomal recessive Robinow syndrome Finding site Bone structure of vertebra true Inferred relationship Some 3
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Some 1
Autosomal recessive Robinow syndrome Finding site Bone structure of rib true Inferred relationship Some 1
Autosomal recessive Robinow syndrome Associated morphology Fusion true Inferred relationship Some 1
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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