Aminopterin syndrome sine aminopterin

Preferred Label : Aminopterin syndrome sine aminopterin;

Symbol : ASSA;

CISMeF acronym : ASSA;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pseudoaminopterin syndrome;

Description : The pseudoaminopterin syndrome (aminopterin syndrome sine aminopterin;;

Inheritance : Autosomal recessive;

Prefixed ID : %600325;

Details

Origin ID

600325;

UMLS CUI

C0795939;

Automatic exact mappings (from CISMeF team)
- Pseudoaminopterin syndrome [ICD-11 More detail]
CISMeF manual mappings
- Pseudoaminopterin syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Pseudoaminopterin syndrome [MeSH concept]
- Pseudoaminopterin syndrome [ORDO Disease]
- pseudoaminopterin syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal facial shape [HPO term]
- Arachnodactyly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Clinodactyly [HPO term]
- Cryptorchidism [HPO term]
- Decreased body weight [HPO term]
- Frontal bossing [HPO term]
- Frontal upsweep of hair [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intrauterine growth retardation [HPO term]
- Joint contracture of the hand [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Narrow forehead [HPO term]
- Narrow palpebral fissure [HPO term]
- Oligodontia [HPO term]
- Posteriorly rotated ears [HPO term]
- Prenatal growth deficiency [HPO term]
- Rudimentary postaxial polydactyly of hands [HPO term]
- Short stature [HPO term]
- Short thumb [HPO term]
- Syndactyly [HPO term]
- Thoracic scoliosis [HPO term]
- Umbilical hernia [HPO term]
- Underdeveloped supraorbital ridges [HPO term]
- Unusual facies [HPO term]
ORDO concept(s)
- Pseudoaminopterin syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudoaminopterin syndrome [MeSH concept]
- Pseudoaminopterin syndrome [ORDO Disease]
- Pseudoaminopterin syndrome (disorder) [SNOMED CT concept]
- pseudoaminopterin syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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