Oculocerebrocutaneous syndrome

Preferred Label : Oculocerebrocutaneous syndrome;

CISMeF acronym : OCCS;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : OCCS; Delleman syndrome; Orbital cyst with cerebral and focal dermal malformations;

Inheritance : Isolated cases;

Prefixed ID : 164180;

Détails

Origin ID

164180;

UMLS CUI

C0796092;

Automatic exact mappings (from CISMeF team)
- Oculo-cerebro-cutaneous syndrome [ICD-11 More detail]
- Oculocerebrocutaneous syndrome [PASCAL descriptor]
- Osteochondritis dissecans (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Leichtman Wood Rohn syndrome [MeSH concept]
- Oculocerebrocutaneous syndrome [MeSH concept]
- Oculocerebrocutaneous syndrome [ORDO Disease]
- Oculocerebrocutaneous syndrome (disorder) [SNOMED CT concept]
- leichtman wood rohn syndrome [MeSH Supplementary Concept]
- oculocerebrocutaneous syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal thorax morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- All cases sporadic [HPO term]
- Alopecia [HPO term]
- Anophthalmia [HPO term]
- Anophthalmia, clinical [HPO term]
- Cleft ala nasi [HPO term]
- Cleft palate [HPO term]
- Congenital hip dislocation [HPO term]
- Cryptorchidism [HPO term]
- Dandy-Walker malformation [HPO term]
- Eyelid coloboma [HPO term]
- Facial asymmetry [HPO term]
- Focal dermal aplasia/hypoplasia [HPO term]
- Gray matter heterotopia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Microphthalmia [HPO term]
- Nystagmus [HPO term]
- Orbital cyst [HPO term]
- Orbital encephalocele [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Oculocerebrocutaneous syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocerebrocutaneous syndrome [MeSH concept]
- Oculocerebrocutaneous syndrome [MedDRA Preferred Term]
- Oculocerebrocutaneous syndrome (disorder) [SNOMED CT concept]
- oculocerebrocutaneous syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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