402772005: Autosomal recessive ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

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

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

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

Descriptions:

Id Description Lang Type Status Case? Module

1770696013 Autosomal recessive ichthyosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1781866015 Autosomal recessive ichthyosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive ichthyosis	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier
Autosomal recessive ichthyosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ichthyosis	Finding site	Structure of skin region	false	Inferred relationship	Existential restriction modifier
Autosomal recessive ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive ichthyosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive ichthyosis	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Self-healing collodion baby	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Congenital ichthyosis with hypotrichosis syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Bathing suit ichthyosis	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis, oral and digital anomalies syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Congenital cataract ichthyosis syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Autosomal recessive exfoliative ichthyosis	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis linearis circumflexa	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Harlequin ichthyosis	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	Is a	False	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis prematurity syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Neu-Laxova syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Autosomal recessive keratitis-ichthyosis-deafness syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Autosomal recessive epidermolytic ichthyosis	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Hereditary skin peeling syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome	Is a	True	Autosomal recessive ichthyosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1770696013	Autosomal recessive ichthyosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1781866015	Autosomal recessive ichthyosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module