Onycho-tricho-dysplasia – neutropaenia syndrome

Preferred Label : Onycho-tricho-dysplasia – neutropaenia syndrome;

ICD-11 definition : Onychotrichodysplasia - neutropaenia (ONMR syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by hypoplastic fingernails, trichorrhexis, chronic neutropenia, and mild psychomotor retardation.;

ICD-11 synonym : Trichothiodystrophy type G; ONMR (MIM 258360); Itin syndrome; ONMR syndrome; ONMR;

Details

Origin ID

1297420805;

Currated CISMeF NLP mapping
- Onycho-tricho-dysplasia neutropenia syndrome (disorder) [SNOMED CT concept]
- Onycho-tricho-dysplasia-neutropenia syndrome [ORDO Disease]
- Onychotrichodysplasia and neutropenia [OMIM Phenotype]
- onychotrichodysplasia and neutropenia [MeSH Supplementary Concept]

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