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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
5401218013 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous 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
5401219017 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterised by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous 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
3304708017 Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5401218013 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous 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
5401219017 Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterised by fibulo-ulnar dysostosis with renal anomalies. It has been described in two siblings born to non-consanguinous 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
3419211001000113 Fibula-/Ulnahypoplasie - Nierenanomalien de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934781000172112 syndrome d'hypoplasie péroné-cubitus-anomalies rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968041000172117 syndrome de Saito-Kuba-Tsuruta fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934781000172112 syndrome d'hypoplasie péroné-cubitus-anomalies rénales fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
968041000172117 syndrome de Saito-Kuba-Tsuruta fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3419211001000113 Fibula-/Ulnahypoplasie - Nierenanomalien 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
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital anomaly of the kidney true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital hypoplasia of fibula true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Congenital hypoplasia of ulna true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of fibula false Inferred relationship Existential restriction modifier (core metadata concept) 4
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of ulna false Inferred relationship Existential restriction modifier (core metadata concept) 5
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of ulna true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Finding site Bone structure of fibula true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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