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716094008: syndrome d'hypoplasie péroné-cubitus-anomalies rénales (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304708017 Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304709013 Fibulo-ulnar hypoplasia and renal anomalies syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304710015 Fibuloulnar hypoplasia with renal abnormalities en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304711016 Saito Kuba Tsuruta syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
749241000241114 syndrome d'hypoplasie péroné-cubitus-anomalies rénales (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
934781000172112 syndrome d'hypoplasie péroné-cubitus-anomalies rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
968041000172117 syndrome de Saito-Kuba-Tsuruta fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3304712011 This syndrome has features of fibuloulnar dysostosis with renal anomalies. It has been described in two siblings born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait. 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
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) localisation d'une constatation (attribut) ulna true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) anomalie congénitale des reins true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of fibula true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Congenital hypoplasia of ulna true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) est un(e) (attribut) Hereditary nephropathy (disorder) true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) localisation d'une constatation (attribut) structure d'un rein true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) localisation d'une constatation (attribut) fibula (structure corporelle) false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) localisation d'une constatation (attribut) ulna false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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