389165004: Brachyolmia - Maroteaux type (disorder)

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

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Brachyolmia (disorder)\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\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondylodysplastic group (disorder)\Brachyolmia (disorder)\Brachyolmia - Maroteaux type (disorder)
\Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Brachyolmia (disorder)\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	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Is a	Brachyolmia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia - Maroteaux type (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachyolmia - Maroteaux type (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Finding site	Musculoskeletal structure of spine	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachyolmia - Maroteaux type (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachyolmia - Maroteaux type (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachyolmia - Maroteaux type (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachyolmia - Maroteaux type (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyolmia - Maroteaux type (disorder)	Interprets	Height / growth measure (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
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
3451191001000118	Brachyolmie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915731000172116	brachyolmie type Maroteaux	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996141000172117	brachyolmie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915731000172116	brachyolmie type Maroteaux	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996141000172117	brachyolmie type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451191001000118	Brachyolmie Typ 2	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module