Trichorhinophalangeal Syndrome, Type I

Preferred Label : Trichorhinophalangeal Syndrome, Type I;

MeSH synonym : trichorhinophalangeal dysplasia 1; trichorhinophalangeal (TRP) syndrome 1; Giedion syndrome;

Details

Origin ID

C536820;

UMLS CUI

C0432233;

Automatic exact mappings (from CISMeF team)
- trichorhinophalangeal syndrome type I [DO Concept]
CISMeF manual mappings
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
Currated CISMeF NLP mapping
- Trichorhinophalangeal Syndrome Type I [NCIt concept]
- Trichorhinophalangeal syndrome, type I [OMIM Phenotype]
DO Cross reference
- trichorhinophalangeal syndrome type I [DO Concept]
MeSH term(s) associated for indexing
- fingers [MeSH Descriptor]
- hair diseases [MeSH Descriptor]
- langer-giedion syndrome [MeSH Descriptor]
- nose [MeSH Descriptor]
Record concept(s)
- Trichorhinophalangeal Syndrome, Type I [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Trichorhinophalangeal Syndrome Type I [NCIt concept]
- Trichorhinophalangeal dysplasia type I (disorder) [SNOMED CT concept]
- Trichorhinophalangeal syndrome, type I [OMIM Phenotype]
- trichorhinophalangeal syndrome 1 [Disease (Nov.)]
- trichorhinophalangeal syndrome type I [DO Concept]

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