Kocher-Debre-Semelaigne syndrome

Preferred Label : Kocher-Debre-Semelaigne syndrome;

ICD-11 definition : This is a (myopathy) of hypothyroidism in infancy or childhood characterized by lower extremity or generalized muscular hypertrophy, myxoedema, short stature and cretinism.;

ICD-11 synonym : Muscular pseudohypertrophy - hypothyroidism; Hoffman syndrome;

Details

Origin ID

109007822;

Automatic exact mappings (from CISMeF team)
- B-cell immunodeficiency, distal limb anomalies, and urogenital malformations [OMIM Phenotype]
- B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome [ORDO Disease]
- Kocher-Debre-Semelaigne syndrome [MeSH concept]
- Kocher-Debre-Semelaigne syndrome [MeSH Supplementary Concept]
- Muscular pseudohypertrophy and hypothyroidism syndrome (disorder) [SNOMED CT concept]
- Muscular pseudohypertrophy-hypothyroidism syndrome [ORDO Disease]

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