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733466005: Camptodactyly taurinuria syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3499487014 Camptodactyly taurinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499488016 Camptodactyly taurinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499489012 Familial streblodactyly with amino-aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3500007015 A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499487014 Camptodactyly taurinuria syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499488016 Camptodactyly taurinuria syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499489012 Familial streblodactyly with amino-aciduria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3500007015 A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3424411001000119 Kamptodaktylie-Taurinurie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5491481000241117 syndrome de camptodactylie et taurinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5491481000241117 syndrome de camptodactylie et taurinurie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424411001000119 Kamptodaktylie-Taurinurie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly taurinuria syndrome (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Camptodactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Finding of musculoskeletal structure of finger false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Inherited aminoaciduria (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Associated morphology Congenital flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly taurinuria syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly taurinuria syndrome (disorder) Finding site Musculoskeletal structure of finger (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly taurinuria syndrome (disorder) Finding site Musculoskeletal structure of finger (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly taurinuria syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly taurinuria syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly taurinuria syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly taurinuria syndrome (disorder) Is a Congenital anomaly of finger false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptodactyly taurinuria syndrome (disorder) Is a Flexion deformity of hand false Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Hereditary camptodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Is a Camptodactyly of finger (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly taurinuria syndrome (disorder) Interprets Urine observable true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptodactyly taurinuria syndrome (disorder) Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptodactyly taurinuria syndrome (disorder) Interprets Urine taurine measurement true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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