ORPHA:79166
Disorder of amino acid absorption and transport
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of amino acid absorption and transport | |
| fr | Trouble de l'absorption et du transport des acides aminés | |
| de | Aminosäureaufnahme- und Transport-Störung | |
| es | Trastornos de la absorción y transporte de aminoácidos | |
| it | Difetto del trasporto e dell'assorbimento degli amminoacidi | |
| nl | Stoornis van aminozuurabsorptie en -transport | |
| pt | Doença do transporte de aminoácidos | |
| pl | Zaburzenie absorpcji i transportu aminokwasów | |
| cs | Poruchy vstřebávání a transportu aminokyselin | |
| uk | Порушення засвоєння та транспортування амінокислот | |
| zh | 氨基酸吸收和转运异常 | |
| tr | Amino asit emilimi ve taşınmasında bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E72.0 | E | specific | validated |
| ICD-11 | 5C60 | E | specific | validated |
| MONDO | 0019216 | E | validated | |
| MONDO | 19216 | E | validated | |
| UMLS | C0268641 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (8):
- ORPHA:363429Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- ORPHA:94086Blue diaper syndrome
- ORPHA:214Cystinuria
- ORPHA:2195Dicarboxylic aminoaciduria
- ORPHA:308451Disorder of neutral amino acid transport
- ORPHA:238517Hypotonia-cystinuria type 1 syndrome
- ORPHA:470Lysinuric protein intolerance
- ORPHA:534Oculocerebrorenal syndrome of Lowe
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79166
- This record as JSON: /data/d/79166.json