Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
3331161015 |
Fitzsimmons McLachlan Gilbert syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3331163017 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3331164011 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
5402856019 |
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402857011 |
A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3331161015 |
Fitzsimmons McLachlan Gilbert syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3331163017 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
en |
Fully specified name |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3331163017 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
en |
Fully specified name |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3331164011 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Only initial character case insensitive (core metadata concept) |
SNOMED CT core |
3331164011 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome |
en |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT core |
3331162010 |
This syndrome has characteristics of intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402856019 |
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
5402857011 |
A rare X-linked syndromic intellectual disability characterised by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. |
en |
Definition |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT core |
3419731001000114 |
Paraplegie-Intelligenzminderung-Hyperkeratose-Syndrom |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3419731001000114 |
Paraplegie-Intelligenzminderung-Hyperkeratose-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 |
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
retard mental |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
X-linked hereditary disease |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Congenital paraplegia (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Spastic paraplegia |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Hereditary palmoplantar keratoderma |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Hereditary disorder of the integument (disorder) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Hereditary disorder of nervous system (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Structure of central nervous system |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Lower limb structure (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has definitional manifestation |
Abnormal keratinization |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
anomalie du développement |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
Hyperkeratosis |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Occurrence |
Congenital |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Skin structure |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Intelligenzminderung |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Keratinisation |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Abnormal |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
Hyperkeratosis |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
Hyperkeratosis |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Skin structure of palmar area of hand |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Skin structure of sole of foot (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Developmental hereditary disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
X-linked recessive hereditary disease |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
pied creux |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Rough skin of hands (finding) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Keratinisation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Abnormal |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Foot structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
Claw-shaped deformity (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Ankle region structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Associated morphology |
Deformity (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Is a |
Inherited disorder of keratinisation |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Intellectual ability (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
8 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Adaptation behavior |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Movement |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
11 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Movement observable |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Absent |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
10 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Structure of right lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
9 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Finding site |
Structure of left lower limb (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
13 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Interprets |
Adaptation behavior |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
|
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) |
Has interpretation |
Impaired (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
12 |
|