hypoparathyroidism-retardation-dysmorphism syndrome

Preferred Label : hypoparathyroidism-retardation-dysmorphism syndrome;

MeSH note : Hypoparathyroidism short stature mental retardation seizures retardation, and developmental delay;

MeSH synonym : Sanjad-Sakati syndrome; hypoparathyroidism with short stature, mental retardation, and seizures;

Details

Origin ID

C537157;

UMLS CUI

C1855840;

Currated CISMeF NLP mapping
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome [NCIt concept]
- Hypoparathyroidism-retardation-dysmorphism syndrome [OMIM Phenotype]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
DO Cross reference
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hypoparathyroidism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- Hypoparathyroidism-retardation-dysmorphism syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoparathyroidism-Retardation-Dysmorphism Syndrome [NCIt concept]
- Hypoparathyroidism-retardation-dysmorphism syndrome [OMIM Phenotype]
- Sanjad Sakati syndrome (disorder) [SNOMED CT concept]
- Sanjad-Sakati syndrome [ORDO Disease]
- hypoparathyroidism-retardation-dysmorphism syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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