725166005: Autosomal recessive omodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Omodysplasia\Autosomal recessive omodysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Omodysplasia\Autosomal recessive omodysplasia

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3439991011 Autosomal recessive omodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3439992016 Autosomal recessive omodysplasia en Synonym Active Case insensitive SNOMED CT core

3439993014 Micromelic dysplasia, dislocation of radius syndrome en Synonym Active Case insensitive SNOMED CT core

3439994015 Omodysplasia 1 en Synonym Active Case insensitive SNOMED CT core

3439995019 An autosomal recessive generalized form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs. en Definition Active Case sensitive SNOMED CT core

3439996018 An autosomal recessive generalised form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive omodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive omodysplasia	Is a	Omodysplasia	true	Inferred relationship	Some
Autosomal recessive omodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal recessive omodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia	Finding site	Bone structure	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

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3439991011	Autosomal recessive omodysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439992016	Autosomal recessive omodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3439993014	Micromelic dysplasia, dislocation of radius syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3439994015	Omodysplasia 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3439995019	An autosomal recessive generalized form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs.	en	Definition	Active	Case sensitive	SNOMED CT core
3439996018	An autosomal recessive generalised form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs.	en	Definition	Active	Case sensitive	SNOMED CT core