Cleft palate, isolated

Preferred Label : Cleft palate, isolated;

Symbol : CPI;

CISMeF acronym : CP; CPI;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CP; Cleft palate;

Description : Cleft palate as an isolated malformation behaves as an entity distinct from cleft lip with or without cleft palate (see 119530). Dominantly inherited cleft soft palate in 4 generations has been reported (Jenkins and Stady, 1980); see 119570.;

Inheritance : Autosomal dominant;

Prefixed ID : %119540;

Details

Origin ID

119540;

UMLS CUI

C1837218;

Automatic exact mappings (from CISMeF team)
- CICATRICIAL MUCOUS MEM. PEMPHIG. [WHO-ART Included Term]
- CP Gene [NCIt concept]
- CP protocol [MeSH Supplementary Concept]
- Centipoise [NCIt concept]
- Cerebral palsy [HPO term]
- Ceruloplasmin [NCIt concept]
- Cleft palate [ICD-9 code]
- Cytidylic acid (substance) [SNOMED CT concept]
- Propionibacterium acnes [NCIt concept]
- Vital Signs Measurement [NCIt concept]
- With (attribute) [SNOMED CT concept]
- benign mucous membrane pemphigoid [SNOMED Notion]
- centipoise (qualifier value) [SNOMED CT concept]
- cerebral palsy [MedlinePlus Topic]
- cerebral peduncle [UBERON concept]
- ceruloplasmin [ORDO Gene]
- choroid plexus [UBERON concept]
- cleft lip and palate [MedlinePlus Topic]
- cortical plate [UBERON concept]
- epilepsies, partial [MeSH Descriptor]
- pemphigoid, benign mucous membrane [MeSH Descriptor]
- platelet concentrate [Blood Transfusion thesaurus concept]
- tablets [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cleft palate [PASCAL descriptor]
- Cleft palate [ICD-11 Category]
- Cleft palate [ICD-10 category]
- cleft palate [Disease (Nov.)]
- cleft palate [DO Concept]
- cleft palate, isolated [MeSH concept]
- isolated cleft palate [DO Concept]
DO Cross reference
- isolated cleft palate [DO Concept]
False automatic mappings
- 1-piperidinocyclohexanecarbonitrile (substance) [SNOMED CT concept]
- CLEFT PALATE [WHO-ART High Level Term]
- Carbohydrate Processing Inhibitor [NCIt concept]
- Chlorambucil/Prednisone Regimen [NCIt concept]
- Chronic pneumonitis of infancy [ORDO Disease]
- Cleft Palate [NCIt concept]
- Cleft palate [ICD-10 category (who)]
- Cleft palate [HPO term]
- Cleft palate [MedDRA Preferred Term]
- Cleft palate [ORDO Disease]
- Clipperton Island [NCIt concept]
- Palate cleft [MedDRA LLT]
- cleft palate [MeSH Descriptor]
- cleft palate [MeSH concept]
- cleft palate, nos [SNOMED Notion]
- cyclopropapyrroloindole [MeSH concept]
- cyclopropapyrroloindole [MeSH Supplementary Concept]
HPO term(s)
- Anterior open-bite malocclusion [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cleft palate [HPO term]
- Gingival overgrowth [HPO term]
- Increased overbite [HPO term]
- Intellectual disability, profound [HPO term]
- Micrognathia [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Cleft palate [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- cleft palate, isolated [MeSH concept]
- isolated cleft palate [DO Concept]
Validated automatic mappings to NTBT
- Cleft palate (disorder) [SNOMED CT concept]

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