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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3304709013 Fibulo-ulnar hypoplasia and renal anomalies syndrome en Synonym Active Case insensitive SNOMED CT core
3304710015 Fibuloulnar hypoplasia with renal abnormalities en Synonym Active Case insensitive SNOMED CT core
3304711016 Saito Kuba Tsuruta syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Saito Kuba Tsuruta syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Saito Kuba Tsuruta syndrome Occurrence Congenital true Inferred relationship Some 2
Saito Kuba Tsuruta syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Saito Kuba Tsuruta syndrome Associated morphology Hypoplasia true Inferred relationship Some 1
Saito Kuba Tsuruta syndrome Finding site Bone structure of ulna true Inferred relationship Some 1
Saito Kuba Tsuruta syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Occurrence Congenital true Inferred relationship Some 1
Saito Kuba Tsuruta syndrome Finding site Bone structure of fibula true Inferred relationship Some 2
Saito Kuba Tsuruta syndrome Associated morphology Hypoplasia true Inferred relationship Some 2
Saito Kuba Tsuruta syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Congenital anomaly of the kidney true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Congenital hypoplasia of fibula true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Congenital hypoplasia of ulna true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Saito Kuba Tsuruta syndrome Is a Hereditary nephropathy true Inferred relationship Some
Saito Kuba Tsuruta syndrome Associated morphology Developmental abnormality false Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Occurrence Congenital true Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Finding site Kidney structure true Inferred relationship Some 3
Saito Kuba Tsuruta syndrome Associated morphology Hypoplasia false Inferred relationship Some 4
Saito Kuba Tsuruta syndrome Occurrence Congenital false Inferred relationship Some 4
Saito Kuba Tsuruta syndrome Finding site Bone structure of fibula false Inferred relationship Some 4
Saito Kuba Tsuruta syndrome Associated morphology Hypoplasia false Inferred relationship Some 5
Saito Kuba Tsuruta syndrome Occurrence Congenital false Inferred relationship Some 5
Saito Kuba Tsuruta syndrome Finding site Bone structure of ulna false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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