41483000: polymalformatief syndroom van kleine gestalte zonder skeletdysplasie (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\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
DeSanctis-Cacchione syndrome	Is a	False	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Russell-Silver syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Dubowitz's syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
De Lange syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Bloom syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Rubinstein-Taybi syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Seckel syndrome	Is a	False	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Hallermann-Streiff syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some
Warsaw breakage syndrome (disorder)	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
69194019	Multiple malformation syndrome, small stature, without skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
69195018	Multiple malformation syndrome, small stature, without skeletal dysplasia, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
778276018	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8465021000146117	polymalformatief syndroom van kleine gestalte zonder skeletdysplasie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465031000146115	polymalformatief syndroom van kleine gestalte zonder skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465041000146111	syndroom van multipele malformaties van kleine lengte zonder skeletdysplasie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)