Hutterite cerebroosteonephrodysplasia syndrome

Preferred Label : Hutterite cerebroosteonephrodysplasia syndrome;

CISMeF acronym : COND;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cerebroosteonephrosis syndrome; COND;

Inheritance : Autosomal recessive;

Prefixed ID : 236450;

Details

Origin ID

236450;

UMLS CUI

C1856054;

Automatic exact mappings (from CISMeF team)
- Condition [NCIt concept]
- Condition (attribute) [SNOMED CT concept]
- Genus Cavia (organism) [SNOMED CT concept]
- Logical Condition [NCIt concept]
- Protocol Test Conditions Met [NCIt concept]
Currated CISMeF NLP mapping
- hutterite cerebroosteonephrodysplasia syndrome [MeSH concept]
- hutterite cerebroosteonephrodysplasia syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Intellectual disability, severe [HPO term]
- Mild spondylorhizomelic dwarfism [HPO term]
- Nephrotic syndrome [HPO term]
- Short stature [HPO term]
- Terminal nephrotic syndrome [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hutterite cerebroosteonephrodysplasia syndrome [MeSH Supplementary Concept]
- hutterite cerebroosteonephrodysplasia syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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