13059002: Congenital ichthyosis of skin (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Rough skin (finding)\Congenital ichthyosis of skin

\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Disease\Keratosis (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital ichthyosis of skin
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital ichthyosis of skin	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ichthyosis of skin	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ichthyosis of skin	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Is a	Genodermatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ichthyosis of skin	Is a	Ichthyosis (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital ichthyosis of skin	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital ichthyosis of skin	Is a	Rough skin (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis of skin	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Harlequin ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Lamellar ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis congenita with biliary atresia	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutaneous syndrome with ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis vulgaris	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Severe ichthyoses	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Non-bullous ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Bullous ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital non bullous ichthyosiform erythroderma	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Dominant congenital ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
érythrokératodermie, trichorrhexie noueuse et dermatite atopique	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis linearis circumflexa	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder)	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked ichthyosis with steryl-sulphatase deficiency	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosiform erythroderma	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis, unspecified	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other congenital ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Follicular ichthyosis	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked recessive ichthyosis	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Rud's syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratoderma hereditarium mutilans with ichthyosis syndrome	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs.	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratinopathic ichthyosis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, syndromic congenital ichthyosis characterised by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy.	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome (disorder)	Is a	False	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Erythrokeratodermia variabilis (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Congenital ichthyosis of skin	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
22354012	Congenital ichthyosis of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22356014	Ichthyosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22357017	Congenital ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22358010	Fish scale disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22362016	Fish skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
734885013	Congenital ichthyosis of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22354012	Congenital ichthyosis of skin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22354012	Congenital ichthyosis of skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22356014	Ichthyosis congenita	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22356014	Ichthyosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22357017	Congenital ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22357017	Congenital ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22358010	Fish scale disease	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22358010	Fish scale disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22361011	Ichthyosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22361011	Ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
22362016	Fish skin	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
22362016	Fish skin	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
734885013	Congenital ichthyosis of skin (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
734885013	Congenital ichthyosis of skin (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
422451000274110	Angeborene Ichthyosis	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
662331000274119	Kongenitale Ichthyose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393654013	ichtyose cutanée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1571000172116	ichtyose congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008421000241117	ichtyose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
50008421000188114	ichtyose congénitale cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3393654013	ichtyose cutanée congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1571000172116	ichtyose congénitale de la peau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1008421000241117	ichtyose congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
50008421000188114	ichtyose congénitale cutanée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
422451000274110	Angeborene Ichthyosis	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
662331000274119	Kongenitale Ichthyose	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module