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770945001: Tetramelic monodactyly (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3703556012 Tetramelic monodactyly en Synonym Active Case insensitive SNOMED CT core
3703557015 Sommer Hines syndrome en Synonym Active Case sensitive SNOMED CT core
3703558013 Tetramelic monodactyly (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3703559017 A rare genetic congenital limb malformation disorder with characteristics of the presence of a single digit on all four extremities. The malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tetramelic monodactyly Pathological process Pathological developmental process true Inferred relationship Some 1
Tetramelic monodactyly Pathological process Pathological developmental process true Inferred relationship Some 2
Tetramelic monodactyly Is a Congenital anomaly of digit false Inferred relationship Some
Tetramelic monodactyly Associated morphology Agenesis true Inferred relationship Some 1
Tetramelic monodactyly Associated morphology Dysplasia true Inferred relationship Some 2
Tetramelic monodactyly Is a Developmental hereditary disorder true Inferred relationship Some
Tetramelic monodactyly Is a Adactyly true Inferred relationship Some
Tetramelic monodactyly Occurrence Congenital true Inferred relationship Some 1
Tetramelic monodactyly Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Tetramelic monodactyly Is a Dysostosis true Inferred relationship Some
Tetramelic monodactyly Occurrence Congenital true Inferred relationship Some 2
Tetramelic monodactyly Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Tetramelic monodactyly Associated morphology Congenital dysplasia false Inferred relationship Some 2
Tetramelic monodactyly Finding site Entire digit true Inferred relationship Some 1
Tetramelic monodactyly Finding site Bone structure of extremity true Inferred relationship Some 2

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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