Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3723420015 |
MDP (mandibular hypoplasia, deafness, progeroid) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3723421016 |
Mandibular hypoplasia, hearing loss, progeroid syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723422011 |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723423018 |
Mandibular hypoplasia, deafness, progeroid syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3723424012 |
A rare genetic premature aging disease characterized by sensorineural deafness, generalized lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3723425013 |
A rare genetic premature ageing disease characterised by sensorineural deafness, generalised lack of subcutaneous fatty tissue (although with increased truncal deposition) noted from childhood, scleroderma, and facial dysmorphism which includes prominent eyes, a beaked nose, small mouth, crowded teeth and mandibular hypoplasia. Other associated features include growth delay, joint contractures, telangiectasia, hypogonadism (with lack of breast development in females), cryptorchidism, skeletal muscle atrophy, and hypertriglyceridaemia and diabetes mellitus/insulin resistance. Caused by heterozygous mutation in the POLD1 gene on chromosome 19q13. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
2 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
true |
Inferred relationship |
Some |
1 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Congenital micrognathism |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
maladie métabolique de l'os |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
localisation d'une constatation (attribut) |
structure de la peau |
true |
Inferred relationship |
Some |
2 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
morphologie associée (attribut) |
Hypoplasia (morphologic abnormality) |
true |
Inferred relationship |
Some |
1 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
3 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Premature aging syndrome (disorder) |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Congenital sensorineural hearing loss (disorder) |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
localisation d'une constatation (attribut) |
structure du système auditif |
true |
Inferred relationship |
Some |
3 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Auditory system hereditary disorder |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Some |
|
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
interprète (attribut) |
Hearing, function (observable entity) |
true |
Inferred relationship |
Some |
4 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
localisation d'une constatation (attribut) |
os de la mandibule |
true |
Inferred relationship |
Some |
1 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
survenue (attribut) |
congénital |
true |
Inferred relationship |
Some |
1 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
localisation d'une constatation (attribut) |
face |
false |
Inferred relationship |
Some |
5 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
morphologie associée (attribut) |
structure anormale sur le plan morphologique |
false |
Inferred relationship |
Some |
5 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process |
false |
Inferred relationship |
Some |
5 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
survenue (attribut) |
congénital |
false |
Inferred relationship |
Some |
5 |
|
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) |
est un(e) (attribut) |
Developmental hereditary disorder |
true |
Inferred relationship |
Some |
|
|