pfeiffer kapferer syndrome

Preferred Label : pfeiffer kapferer syndrome;

MeSH note : Sensorineural deafness, hypospadias, and synostosis of metacarpals and metatarsals 4 and 5;

MeSH synonym : short stature, mental retardation and multiple dysmorphisms;

Details

Origin ID

C537887;

UMLS CUI

C2931654;

Currated CISMeF NLP mapping
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) [SNOMED CT concept]
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Pfeiffer Kapferer syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) [SNOMED CT concept]
- Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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