770946000: Postaxial tetramelic oligodactyly (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Postaxial tetramelic oligodactyly

\Musculoskeletal finding\Bone finding\Bone absent\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Postaxial tetramelic oligodactyly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Postaxial tetramelic oligodactyly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Disorder of extremity\Congenital anomaly of limb\Postaxial tetramelic oligodactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Developmental hereditary disorder\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital absence of skeletal bone\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Postaxial tetramelic oligodactyly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Postaxial tetramelic oligodactyly

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

Descriptions:

Id Description Lang Type Status Case? Module

3703560010 Postaxial tetramelic oligodactyly en Synonym Active Case insensitive SNOMED CT core

3703561014 Postaxial tetramelic oligodactyly (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3703562019 A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Postaxial tetramelic oligodactyly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Associated morphology	Absence	true	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	Dysostosis	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Is a	Congenital absence of skeletal bone	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Finding site	Bone structure of extremity	true	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Postaxial tetramelic oligodactyly	Associated morphology	Congenital absence	false	Inferred relationship	Some	1
Postaxial tetramelic oligodactyly	Finding site	Entire bone of limb	true	Inferred relationship	Some	1

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3703560010	Postaxial tetramelic oligodactyly	en	Synonym	Active	Case insensitive	SNOMED CT core
3703561014	Postaxial tetramelic oligodactyly (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3703562019	A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	en	Definition	Active	Case sensitive	SNOMED CT core