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716094008: Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)


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
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
934781000172112 syndrome d'hypoplasie péroné-cubitus-anomalies rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
968041000172117 syndrome de Saito-Kuba-Tsuruta fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
897151000172111 fibulo-ulnaire hypoplasie, renale anomalieën nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
923881000172118 syndroom van Saito-Kuba-Tsuruta nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital hypoplasia of fibula true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital hypoplasia of ulna true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Kidney structure true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Some 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Some 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Some 5
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) Occurrence Congenital 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) Associated morphology Hypoplasia true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of 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) Occurrence Congenital true Inferred relationship Some 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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