Aprosencephaly/atelencephaly spectrum
Synonyms: AP/AT spectum
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A group of rare central nervous system malformations characterized by varying degrees of absence or dysplasia of the derivatives of the prosencephalon (i.e. telencephalon and diencephalon), with an intact cranial vault. The spectrum comprises atelencephaly, the less severe form, in which only the telencephalon is affected, and aprosencephaly, where the diencephalon is also involved. The malformations may occur in an isolated form or in association with other anomalies.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aprosencephaly/atelencephaly spectrum | AP/AT spectum |
| fr | Spectre aprosencéphalie/atélencéphalie | Spectre AP/AT |
| de | Aprosenzephalie/Atelenzephalie-Spektrum | AP/AT-Spektrum |
| es | Espectro aprosencefalia/atelencefalia | |
| it | Spettro dell'aprosencefalia/atelencefalia | Spettro AP/AT |
| nl | Aprosencefalie/atelencefalie-spectrum | AP/AT-spectum |
| pt | Espectro clínico de aprosencefalia/atelencefalia | |
| pl | Aprosencefalia/atelencefalia spektrum | = en |
| cs | Spektrum aprosencefalie/atelencefalie | = en |
| uk | Спектр апросенцефалії/ателенцефалії | Спектр AP/AT |
| zh | 脑前部缺无/脑发育不全谱系 | = en |
| tr | Aprosensefali / atelensefali spektrumu | AP/AT spektrumu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q04.3 | NTBT | attributed | validated |
| ICD-11 | LA05.Y | NTBT | index | validated |
| MONDO | 0035448 | E | validated | |
| UMLS | C5680135 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:268926Midline cerebral malformation
rare developmental anomalies during embryogenesis; rare neurological diseases
Children (2):
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/566847
- This record as JSON: /data/d/566847.json