Atypical hypotonia-cystinuria syndrome

Preferred Label : Atypical hypotonia-cystinuria syndrome;

ICD-11 definition : A condition characterized by neonatal and infantile hypotonia, poor feeding in neonates, growth retardation due to growth hormone deficiency, mild facial dysmorphism and cystinuria type I.;

ICD-11 synonym : Atypical HCS; Atypical HCS - [hypotonia-cystinuria syndrome]; hypotonia-cystinuria syndrome;

Details

Origin ID

1982772708;

Currated CISMeF NLP mapping
- Atypical hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia cystinuria syndrome (disorder) [SNOMED CT concept]
- Hypotonia-Cystinuria syndrome [MeSH concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Hypotonia-cystinuria syndrome [ORDO Disease]
- Hypotonia-cystinuria syndrome [MedDRA Preferred Term]
- Hypotonia-cystinuria syndrome [OMIM Phenotype]
- hypotonia cystinuria syndrome [Disease (Nov.)]
- hypotonia-cystinuria syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients