770945001: Tetramelic monodactyly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly

\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Tetramelic monodactyly
\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Tetramelic monodactyly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tetramelic monodactyly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Tetramelic monodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Tetramelic monodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Tetramelic monodactyly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Developmental disorder\Developmental hereditary disorder\Tetramelic monodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Tetramelic monodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Tetramelic monodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Tetramelic monodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Adactyly\Tetramelic monodactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Partial congenital absence of limb\Adactyly\Tetramelic monodactyly

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703556012 Tetramelic monodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703557015 Sommer Hines syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703558013 Tetramelic monodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

4209041000052114 monodaktyli, enstaka finger eller tå på armar och ben sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
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	kongenital dysplasi	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
Tetramelic monodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tetramelic monodactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Tetramelic monodactyly	Is a	Congenital anomaly of digit (disorder)	false	Inferred relationship	Some
Tetramelic monodactyly	Associated morphology	Agenesis (morphologic abnormality)	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	Is a	Congenital dysplasia of limb (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703556012	Tetramelic monodactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703557015	Sommer Hines syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703558013	Tetramelic monodactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
4209041000052114	monodaktyli, enstaka finger eller tå på armar och ben	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)