402772005: Autosomal recessive ichthyosis (disorder)

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

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

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

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

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

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis (disorder)

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

1770696013 Autosomal recessive ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1781866015 Autosomal recessive ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

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

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 (core metadata concept)	SNOMED CT core
1781866015	Autosomal recessive ichthyosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core