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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
7097911000241115 syndrome polymalformatif avec observations cérébrales et/ou neuromusculaires inhabituelles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7097921000241110 syndrome polymalformatif avec constatations cérébrales et/ou neuromusculaires inhabituelles fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 (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 anomalie du développement 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
Royer's syndrome 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 rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It 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 (disorder) 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 phenotype 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
Amyoplasie, kongenitale Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Some
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Is a False Multiple malformation syndrome with unusual brain and/or neuromuscular findings Inferred relationship Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. 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
Amyoplasie, kongenitale 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 characterised 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 heterogeneous 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

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