725166005: Autosomal recessive omodysplasia (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\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\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal recessive omodysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core

3439992016 Autosomal recessive omodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3439993014 Micromelic dysplasia, dislocation of radius syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3439994015 Omodysplasia 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive omodysplasia (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive omodysplasia (disorder)	Is a	Omodysplasia (disorder)	true	Inferred relationship	Some
Autosomal recessive omodysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal recessive omodysplasia (disorder)	Interprets	Limb length	true	Inferred relationship	Some	2
Autosomal recessive omodysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Autosomal recessive omodysplasia (disorder)	Finding site	Bone structure of extremity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3439991011	Autosomal recessive omodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439992016	Autosomal recessive omodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439993014	Micromelic dysplasia, dislocation of radius syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439994015	Omodysplasia 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core