Fryns macrocephaly

Preferred Label : Fryns macrocephaly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Macrocephaly with spastic paraplegia and distinctive craniofacial appearance;

Inheritance : Autosomal recessive;

Prefixed ID : 600302;

Details

Origin ID

600302;

UMLS CUI

C1838281;

Currated CISMeF NLP mapping
- Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-spastic paraplegia-dysmorphism syndrome [ORDO Disease]
- fryns macrocephaly [MeSH concept]
- fryns macrocephaly [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the eye [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Cerebral atrophy [HPO term]
- Everted lower lip vermilion [HPO term]
- High, broad forehead [HPO term]
- Intellectual disability, mild [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Macrodontia of permanent maxillary central incisor [HPO term]
- Paraplegia [HPO term]
- Postnatal macrocephaly [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Short upper lip [HPO term]
- Spastic paraplegia [HPO term]
- Thin upper lip vermilion [HPO term]
- Truncal obesity [HPO term]
- Wide intermamillary distance [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Macrocephaly-spastic paraplegia-dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder) [SNOMED CT concept]
- Macrocephaly-spastic paraplegia-dysmorphism syndrome [ORDO Disease]
- fryns macrocephaly [MeSH Supplementary Concept]
- fryns macrocephaly [MeSH concept]

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