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76520005: Robinow syndrome (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
127073014 Robinow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
127074015 Fetal face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
817249015 Robinow syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3012306011 Foetal face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5169136014 Acral dysostosis with facial and genital abnormalities en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5169137017 Robinow Silverman Smith syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5169138010 A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
127073014 Robinow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
127074015 Fetal face syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
127074015 Fetal face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
817249015 Robinow syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
817249015 Robinow syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3012306011 Foetal face syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3012306011 Foetal face syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5169136014 Acral dysostosis with facial and genital abnormalities en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5169137017 Robinow Silverman Smith syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5169138010 A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3390921001000113 Robinow-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877481000172116 syndrome de Robinow fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889781000172113 dysostose acrale avec anomalies faciales et génitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
877481000172116 syndrome de Robinow fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
889781000172113 dysostose acrale avec anomalies faciales et génitales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3390921001000113 Robinow-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Robinow syndrome Is a Autosomal hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Congenital anomaly of face false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Mesomelic dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Multiple malformation syndrome, moderate short stature, facial false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Disorder of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Disorder of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Robinow syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Is a Finding of vertebra (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site Bone structure of spine false Inferred relationship Existential restriction modifier (core metadata concept) 3
Robinow syndrome Is a Disorder of vertebral column (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Is a Deformity of limb (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 1
Robinow syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Robinow syndrome Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Robinow syndrome Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Robinow syndrome Is a Congenital anomaly of face (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Congenital absence of spine false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Bone absent (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Is a Congenital anomaly of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site Skeletal system structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Clinical course Progressive false Inferred relationship Existential restriction modifier (core metadata concept) 5
Robinow syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Congenital absence of skeletal bone false Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Interprets Height / growth measure (observable entity) false Inferred relationship Existential restriction modifier (core metadata concept) 6
Robinow syndrome Interprets Limb length true Inferred relationship Existential restriction modifier (core metadata concept) 6
Robinow syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 6
Robinow syndrome Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 4
Robinow syndrome Is a Congenital malformation of genital organs true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Reproductive system hereditary disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Is a Disorder of pelvic region of trunk (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Robinow syndrome Finding site External genitalia structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Robinow syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Robinow syndrome (disorder) Is a True Robinow syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive Robinow syndrome Is a True Robinow syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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