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

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

\Disorder of foetus and/or newborn\Congenital disease\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

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)

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	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	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
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	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	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
A very rare, multiple congenital contractures syndrome with characteristics of microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. This disease is the most severe form of distal arthrogryposis.	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
kongenit multipel artrogrypose	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.	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	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
Walker-Warburgs syndrom	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
Arthrogryposis (disorder)	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
kongenit multipel artrogrypose	Is a	False	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome, such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxisomal defects, however, have been reported. Transmission is thought to be autosomal recessive.	Is a	True	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	Inferred relationship	Some
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.	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
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)