725164008: Omodysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3439905012 Omodysplasia (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3439906013 Omodysplasia en Synonym Active Case insensitive SNOMED CT core

3439907016 Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The etiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family. en Definition Active Case sensitive SNOMED CT core

3439908014 Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The aetiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Omodysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Omodysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Omodysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Omodysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Omodysplasia	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Omodysplasia	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Omodysplasia	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Omodysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Omodysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Omodysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Omodysplasia	Finding site	Bone structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal dominant omodysplasia	Is a	True	Omodysplasia	Inferred relationship	Some
Autosomal recessive omodysplasia	Is a	True	Omodysplasia	Inferred relationship	Some

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
3439905012	Omodysplasia (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3439906013	Omodysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
3439907016	Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The etiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family.	en	Definition	Active	Case sensitive	SNOMED CT core
3439908014	Omodysplasia is a rare skeletal dysplasia characterised by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalised form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. In total, less than 40 cases of omodysplasia have been described in the literature so far, with the majority of reported cases concerning the autosomal recessive form of the disease. The aetiology remains unknown but a paternally inherited paracentric inversion of 15q13 to q21.3 has been detected in one family.	en	Definition	Active	Case sensitive	SNOMED CT core