389165004: brachyolmie type 2 (aandoening)

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

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (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\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (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\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group\Brachyolmia\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Brachyolmia\Brachyolmia - Maroteaux type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachyolmia - Maroteaux type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Is a	Brachyolmia	true	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Associated morphology	congenitale dysplasie (afwijkende morfologie)	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Some	2
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Some	3
Brachyolmia - Maroteaux type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Brachyolmia - Maroteaux type (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1463344013	Brachyolmia - Maroteaux type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1483217013	Brachyolmia - Maroteaux type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
8175401000146112	brachyolmie, Maroteaux-type	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8175411000146114	brachyolmie type 2 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8175421000146116	brachyolmie type 2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)