PIBIDS syndrome

Preferred Label : PIBIDS syndrome;

ICD-11 definition : PIBIDS syndrome is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by Ichtyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature (like in IBIDS syndrome) combined with photosensitivity.;

ICD-11 synonym : Trichothiodystrophy type F; Trichothiodystrophy - sun sensitivity;

Details

Origin ID

1390877570;

Currated CISMeF NLP mapping
- PIBIDS syndrome [ORDO Disease]
- Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome (disorder) [SNOMED CT concept]
- Trichothiodystrophy 1, Photosensitive [NCIt concept]
- photosensitive trichothiodystrophy [DO Concept]
- photosensitive trichothiodystrophy [MeSH concept]
- trichothiodystrophy with sun sensitivity [MeSH Supplementary Concept]
- trichothiodystrophy with sun sensitivity [MeSH concept]
See also inter- (CISMeF)
- IBIDS syndrome [MeSH concept]
- Trichothiodystrophy 1, photosensitive [OMIM Phenotype]
Validated automatic mappings to NTBT
- trichothiodystrophy syndromes [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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