Kocher-Debre-Semelaigne syndrome

Preferred Label : Kocher-Debre-Semelaigne syndrome;

MeSH note : Association of muscular pseudohypertrophy and hypothyroidism in children;

MeSH synonym : kocher debre semelaigne disease;

Details

Origin ID

C537211;

UMLS CUI

C0270958;

Automatic exact mappings (from CISMeF team)
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome [ORDO Disease]
- Kocher-Debre-Semelaigne syndrome [ICD-11 More detail]
- Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Muscular pseudohypertrophy-hypothyroidism syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- congenital hypothyroidism [MeSH Descriptor]
- hypertrophy [MeSH Descriptor]
- muscle, skeletal [MeSH Descriptor]
- muscular diseases [MeSH Descriptor]
Record concept(s)
- Kocher-Debre-Semelaigne syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Débré-Sémélaigne's syndrome (disorder) [SNOMED CT concept]
- Hypothyroid myopathy (disorder) [SNOMED CT concept]
- Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) [SNOMED CT concept]
- Muscular pseudohypertrophy-hypothyroidism syndrome [ORDO Disease]
- debre-semelaigne's syndrome [SNOMED Notion]
- hypothyroid myopathy [SNOMED Notion]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients