725165009: Autosomal dominant omodysplasia (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\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 is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\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 is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Developmental hereditary disorder\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur.\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.\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.

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

3439936016 An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3439933012 Autosomal dominant omodysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3439934018 Autosomal dominant omodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3439935017 Omodysplasia 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Is a	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.	true	Inferred relationship	Some
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Associated morphology	kongenit dysplasi	false	Inferred relationship	Some	1
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Occurrence	Congenital	true	Inferred relationship	Some	1
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Finding site	Bone structure	false	Inferred relationship	Some	1
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Has interpretation	Below reference range	true	Inferred relationship	Some	2
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Is a	Finding of bone of upper limb	true	Inferred relationship	Some
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Interprets	Arm length	true	Inferred relationship	Some	2
An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	Finding site	Bone structure of upper limb (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

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Id	Description	Lang	Type	Status	Case?	Module
3439936016	An autosomal dominant form of omodysplasia a rare skeletal dysplasia, in which stature is normal and shortening is limited to the upper limbs.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3439933012	Autosomal dominant omodysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439934018	Autosomal dominant omodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439935017	Omodysplasia 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core