773985008: Peripheral dysostosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Peripheral dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral dysostosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Peripheral dysostosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Peripheral dysostosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Peripheral dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Peripheral dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis
\Disease\Developmental disorder\Developmental hereditary disorder\Peripheral dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysostosis\Peripheral dysostosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Peripheral dysostosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3727470016 Peripheral dysostosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3727471017 Peripheral dysostosis en Synonym Active Case insensitive SNOMED CT core

3727393011 A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Peripheral dysostosis	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Peripheral dysostosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Peripheral dysostosis	Is a	Dysostosis	true	Inferred relationship	Some
Peripheral dysostosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Peripheral dysostosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Peripheral dysostosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Peripheral dysostosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Peripheral dysostosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Peripheral dysostosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
3727470016	Peripheral dysostosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3727471017	Peripheral dysostosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3727393011	A rare primary bone dysplasia with characteristics of cone-shaped epiphyses of the phalanges, hyperextensibility and hyper-flexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.	en	Definition	Active	Case sensitive	SNOMED CT core