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

18 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 (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Congenital anomaly of head false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with unusual brain and/or neuromuscular findings Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept)
Schinzel-Giedion syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus. Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Inherited arthrogryposis Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Meckel-Gruber syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz-Jampel syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Royer's syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-oculo-facio-skeletal syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Freeman-Sheldon syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Cohen syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Pallister-Hall syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Lethal multiple pterygium syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia-telangiectasia syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Crooked calf syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
X-linked hydrocephalus syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Pena-Shokeir phenotype Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Neu-Laxova syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Steinert myotonic dystrophy syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Marinesco-Sjögren syndrome (disorder) Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Schwartz syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Hecht syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Warburg syndrome Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Zellweger-like syndrome without peroxisomal anomaly (disorder) Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)
Pena-Shokeir syndrome type I (disorder) Is a True Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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