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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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
106661014 Multiple malformation syndrome with unusual brain and/or neuromuscular findings en Synonym Active Entire term case insensitive SNOMED CT core module
803525011 Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


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 false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Finding site Brain structure false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1

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

This concept is not in any reference sets

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