41483000: Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

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

\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

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

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

Descriptions:

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

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

1746401000005113 Multimisdannelsessyndrom, kort statur, uden skeletal dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome, small stature, without skeletal dysplasia	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia	Is a	Congenital malformation syndromes associated with short stature	true	Inferred relationship	Some
Multiple malformation syndrome, small stature, without skeletal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia	Associated morphology	dysgenese	false	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Multiple malformation syndrome, small stature, without skeletal dysplasia	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	Inferred relationship	Some
Russell-Silver syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
Dubowitz's syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
De Lange syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
Bloom syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
Rubinstein-Taybi syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
Seckel syndrome	Is a	False	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
Hallermann-Streiff syndrome	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	Inferred relationship	Some
A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations	Is a	True	Multiple malformation syndrome, small stature, without skeletal dysplasia	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
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
1746401000005113	Multimisdannelsessyndrom, kort statur, uden skeletal dysplasi	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)