Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction

Preferred Label : Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601351;

Détails

Origin ID

601351;

UMLS CUI

C1832438;

Automatic exact mappings (from CISMeF team)
- Deafness - epiphyseal dysplasia - short stature [ICD-11 More detail]
Currated CISMeF NLP mapping
- Chitty Hall Baraitser syndrome [MeSH concept]
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
- chitty hall baraitser syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of femoral epiphysis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral nasolacrimal duct obstruction [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Epiphyseal dysplasia [HPO term]
- Growth delay [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability, moderate [HPO term]
- Lacrimal duct stenosis [HPO term]
- Pointed chin [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short stature [HPO term]
- Triangular face [HPO term]
- Umbilical hernia [HPO term]
ORDO concept(s)
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chitty Hall Baraitser syndrome [MeSH concept]
- Deafness with epiphyseal dysplasia and short stature syndrome (disorder) [SNOMED CT concept]
- Deafness-epiphyseal dysplasia-short stature syndrome [ORDO Disease]
- chitty hall baraitser syndrome [MeSH Supplementary Concept]

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

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