64162006: polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings

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

106661014 Multiple malformation syndrome with unusual brain and/or neuromuscular findings en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

803525011 Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8464731000146118 polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8464741000146114 polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8464751000146112 syndroom van multipele malformaties met abnormale bevinding van hersenen en/of neuromusculatuur nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Occurrence	Congenital	false	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Finding site	Brain structure	false	Inferred relationship	Some	1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Sjögren-Larsson syndrome (disorder)	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Schinzel-Giedion syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Inherited arthrogryposis	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Meckel-Gruber syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Royer's syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Cerebro-oculo-facio-skeletal syndrome (disorder)	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Cohen syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Pallister-Hall syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Lethal multiple pterygium syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Ataxia-telangiectasia syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Crooked calf syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
X-linked hydrocephalus syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Pena-Shokeir-fenotype	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Angelman syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
amyoplasia congenita (aandoening)	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Neu-Laxova syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Lowe syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Marinesco-Sjögren syndrome (disorder)	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Schwartz syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Hecht syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Zellweger syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Prader-Willi syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Warburg syndrome	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Arthrogryposis	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
amyoplasia congenita (aandoening)	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Zellweger-like syndrome without peroxisomal anomaly (disorder)	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Prader-Willi-like syndrome	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
106661014	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
803525011	Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8464731000146118	polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464741000146114	polymalformatief syndroom met ongebruikelijke cerebrale en/of neuromusculaire bevinding (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8464751000146112	syndroom van multipele malformaties met abnormale bevinding van hersenen en/of neuromusculatuur	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)