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64162006: Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)


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 Reference Sets
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 GB English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)
2006431000005112 Multimisdannelsessyndrom med usædvanlige cerebrale og/eller neuromuskulære fund da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept) Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

29 descendants. Search Descendants:

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 (disorder) 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 Kongenit 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 dysgenese 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
Royers syndrom 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-Shokeirs fænotype 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 disruptive sequence (disorder) 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' syndrom Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Some
Hecht syndrome Is a True 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 True 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 disruptive sequence (disorder) Is a True 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

Danish translated concepts reference set (foundation metadata concept)

GB English

US English

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