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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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly taurinuria syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of finger true Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Congenital anomaly of finger false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) déformation en flexion de la main false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Hereditary camptodactyly true Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Camptodactyly of finger (disorder) true Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Camptodactyly false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Congenital anomaly of musculoskeletal system false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Congenital abnormal shape of digit false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Finding of musculoskeletal structure of finger false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) Inherited aminoaciduria true Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) morphologie associée (attribut) Congenital flexion deformity false Inferred relationship Some 2
Camptodactyly taurinuria syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Camptodactyly taurinuria syndrome (disorder) localisation d'une constatation (attribut) Musculoskeletal structure of finger false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

US English

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