725165009: autosomaal dominante 'omodysplasia' (aandoening)

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

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

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Autosomal dominant 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 dominant omodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal dominant 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 dominant omodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Rhizomelic dysplasia (disorder)\Omodysplasia (disorder)\Autosomal dominant omodysplasia (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant omodysplasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	Is a	Omodysplasia (disorder)	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Autosomal dominant omodysplasia (disorder)	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Autosomal dominant omodysplasia (disorder)	Is a	Finding of bone of upper limb	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	Is a	Congenital anomaly of upper limb	true	Inferred relationship	Some
Autosomal dominant omodysplasia (disorder)	Interprets	Arm length	true	Inferred relationship	Some	2
Autosomal dominant omodysplasia (disorder)	Finding site	Bone structure of upper limb (body structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
7879761000146119	autosomaal dominante 'omodysplasia' (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7879771000146113	autosomaal dominante 'omodysplasia'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
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