Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
2529711019 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2533142015 |
De Sanctis-Cacchione syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2536925015 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2536926019 |
Xerodermic idiocy |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2529711019 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2529711019 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2533142015 |
De Sanctis-Cacchione syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2536925015 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2536925015 |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
2536926019 |
Xerodermic idiocy |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
2536926019 |
Xerodermic idiocy |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
Disorder of central nervous system due to xeroderma pigmentosum (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
retard mental |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
Congenital hypoplasia of gonad |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
Reproductive system hereditary disorder (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Is a |
Short stature disorder (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Finding site |
Gonadal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Due to |
Xeroderma pigmentosum (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Associated morphology |
Congenital hypoplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Finding site |
Nervous system structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Finding site |
Gonadal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Associated morphology |
Congenital hypoplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Associated morphology |
Hypoplasia |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Mental retardation, dwarfism, and gonadal hypoplasia due to xeroderma pigmentosa |
Finding site |
Gonadal structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|