Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3704812013 |
PARC syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704816011 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704817019 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704818012 |
PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705163018 |
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705164012 |
A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704812013 |
PARC syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3704816011 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704817019 |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3704818012 |
PARC (poikiloderma, alopecia, retrognathism, cleft palate) syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705163018 |
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3705164012 |
A rare genetic developmental defect during embryogenesis. A syndrome characterised by the association of congenital poikiloderma (P), generalised alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3414491001000118 |
PARC-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6476401000241111 |
syndrome de poïkilodermie, alopécie, rétrognathie et fente palatine |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6476411000241113 |
syndrome PARC (poikiloderma, alopecia, retrognathism, cleft palate) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6476401000241111 |
syndrome de poïkilodermie, alopécie, rétrognathie et fente palatine |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6476411000241113 |
syndrome PARC (poikiloderma, alopecia, retrognathism, cleft palate) |
fr |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3414491001000118 |
PARC-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Multiple system malformation syndrome |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Hereditary disorder of the integument (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Hereditary disorder of musculoskeletal system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Congenital alopecia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Digestive system hereditary disorder |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Cleft palate |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Congenital retrognathism |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Autosomal dominant hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Poikiloderma (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Bone structure of jaw (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Palatal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Skin structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Poikiloderma |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Congenital absence (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Hair structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Congenital anomaly of skin (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Recession |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Bone structure of jaw (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Posterior displacement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Finding site |
Bone structure of head |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Developmental failure of fusion (morphologic abnormality) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) |
Associated morphology |
Absence (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|