multiple pterygium syndrome

Preferred Label : multiple pterygium syndrome;

CISMeF synonym : multiple pterygium syndrome lethal type;

MeSH synonym : pterygium colli syndrome; pterygium universale; pterygium syndrome, multiple; escobar syndrome; pterygium syndrome; multiple pterygium syndrome, nonlethal type; multiple pterygium syndrome, escobar variant; familial pterygium syndrome;

Related MeSH term : Pterygium Syndrome, Multiple, Lethal Type; Multiple Pterygium Syndrome, Lethal Type; Pterygium Multiple syndrome, lethal type; Lethal multiple pterygium syndrome;

Is substance : O;

Details

Origin ID

C537377;

UMLS CUI

C0265261;

Automatic exact mappings (from CISMeF team)
- Escobar syndrome [ICD-11 More detail]
- Lethal Multiple Pterygium Syndrome [NCIt concept]
- Lethal multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome [ICD-11 Sub-sub category]
- Noonan syndrome 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Escobar Syndrome [NCIt concept]
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome, escobar variant [OMIM Phenotype]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [DO Concept]
DO Cross reference
- multiple pterygium syndrome [DO Concept]
Manual BTNT mappings - CISMeF
- nonlethal multiple pterygium syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- malignant hyperthermia [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome lethal type [MeSH concept]
See also inter- (CISMeF)
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Escobar Syndrome [NCIt concept]
- Escobar syndrome [MedDRA LLT]
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome, escobar variant [OMIM Phenotype]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [DO Concept]
- nonlethal multiple pterygium syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Lethal Multiple Pterygium Syndrome [NCIt concept]
- Lethal multiple pterygium syndrome [ORDO Disease]
- Lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome, lethal type [OMIM Phenotype]
- lethal multiple pterygium syndrome [SNOMED Notion]

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