Sveinsson chorioretinal atrophy

Preferred Label : Sveinsson chorioretinal atrophy;

Symbol : SCRA;

CISMeF acronym : AA; HPCD; SCRA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : AA; Peripapillary chorioretinal degeneration, icelandic type; Helicoidal peripapillary chorioretinal degeneration; Atrophia areata; HPCD;

Inheritance : Autosomal dominant;

Prefixed ID : #108985;

Details

Origin ID

108985;

UMLS CUI

C1862382;

Automatic exact mappings (from CISMeF team)
- ANLN wt Allele [NCIt concept]
- Amino Acid Measurement [NCIt concept]
- Amino acid [FMA entity]
- Amino acids [LOINC component]
- Amino acids panel [LOINC component]
- Aplastic anaemia [ICD-11 Category]
- Cytarabine/Doxorubicin Regimen [NCIt concept]
- Machine Learning [MeSH Descriptor]
- acide icosa-5,8,11,14-tetraenoique [nom iupac français], icosa-5,8,11,14-tetraenoic acid [Substance BNPC]
- alcoholics anonymous [MeSH Descriptor]
- amino acid, nos [SNOMED Notion]
- amino acids [ATC Code]
- amino acids [MeSH concept]
- amino acids [ATC Code]
- amino acids [ATC Code]
- amino acids [MeSH Descriptor]
- analogs and derivatives [MeSH Qualifier]
- anillin, actin binding protein [ORDO Gene]
- aorta, descending [MeSH concept]
- arachidonic acid [MeSH concept]
- arachidonic acid [SNOMED Notion]
- arachidonic acid [MeSH Descriptor]
- arachidonic acids [MeSH concept]
- arachidonic acids [MeSH Descriptor]
- surrounding air [SYNODOS term]
Currated CISMeF NLP mapping
- Helicoid peripapillary chorioretinal degeneration [ICD-11 More detail]
- Helicoid peripapillary chorioretinal degeneration [ORDO Disease]
- Helicoid peripapillary chorioretinal degeneration (disorder) [SNOMED CT concept]
- Sveinsson chorioretinal atrophy [DO Concept]
- sveinsson chorioretinal atrophy [MeSH concept]
- sveinsson chorioretinal atrophy [MeSH Supplementary Concept]
DO Cross reference
- Sveinsson chorioretinal atrophy [DO Concept]
False automatic mappings
- Amino Acid [NCIt concept]
- Aruba [NCIt concept]
- Associate Degree [NCIt concept]
- Associate of Applied Science [NCIt concept]
- Of Each [NCIt concept]
Genes related to phenotype
- Tea domain family member 1 [OMIM gene]
HPO term(s)
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Myopia [HPO term]
- Peripapillary chorioretinal atrophy [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Helicoid peripapillary chorioretinal degeneration [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Helicoid peripapillary chorioretinal degeneration [ORDO Disease]
- Helicoid peripapillary chorioretinal degeneration [ICD-11 More detail]
- Helicoid peripapillary chorioretinal degeneration (disorder) [SNOMED CT concept]
- Sveinsson chorioretinal atrophy [DO Concept]
- sveinsson chorioretinal atrophy [MeSH Supplementary Concept]
- sveinsson chorioretinal atrophy [MeSH concept]

Keyword's position in hierarchy(ies) :

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