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 keratinisation\...

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\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 keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

\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
\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 keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal recessive ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\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 anomaly\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 anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis

Status: current, Defined. 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 Case insensitive SNOMED CT core

1781866015 Autosomal recessive ichthyosis en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

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