Diaphragmatic defects, limb deficiencies, and ossification defects of skull

Preferred Label : Diaphragmatic defects, limb deficiencies, and ossification defects of skull;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Froster syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : %601163;

Details

Origin ID

601163;

UMLS CUI

C1832668;

Automatic exact mappings (from CISMeF team)
- diaphragmatic defects, limb deficiencies, and ossification defects of skull [MeSH concept]
- diaphragmatic defects, limb deficiencies, and ossification defects of skull [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Diaphragmatic defect-limb deficiency-skull defect syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the diaphragm [HPO term]
- Amelia [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Decreased skull ossification [HPO term]
- Hypertelorism [HPO term]
- Intestinal malrotation [HPO term]
- Low-set ears [HPO term]
- Omphalocele [HPO term]
- Pulmonary hypoplasia [HPO term]
- Syndactyly [HPO term]
- Testicular atrophy [HPO term]
- Toe syndactyly [HPO term]
ORDO concept(s)
- Diaphragmatic defect-limb deficiency-skull defect syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diaphragmatic defect-limb deficiency-skull defect syndrome [ORDO Disease]
- diaphragmatic defects, limb deficiencies, and ossification defects of skull [MeSH Supplementary Concept]
- diaphragmatic defects, limb deficiencies, and ossification defects of skull [MeSH concept]

Keyword's position in hierarchy(ies) :

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