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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
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
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 Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a Robinow syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Clinical course Progressive false Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Robinow syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Finding site Bone structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive Robinow syndrome Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive Robinow syndrome Interprets Limb length true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive Robinow syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Autosomal recessive Robinow syndrome Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive Robinow syndrome Interprets Body height measure true Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive Robinow syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 8
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive Robinow syndrome Finding site External genitalia structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Autosomal recessive Robinow syndrome Is a Congenital anomaly of rib true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a Defect of vertebral segmentation true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a Short stature disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a Finding of vertebra (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a Congenital anomaly of spine true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Finding site Bone structure of vertebra true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Autosomal recessive Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Robinow syndrome Finding site Bone structure of rib true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Robinow syndrome Associated morphology Fusion true Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal recessive Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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