732950006: Ichthyosis, oral and digital anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

\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\Ichthyosis, oral and digital anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinization\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\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\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Ichthyosis, oral and digital anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal recessive ichthyosis\Ichthyosis, oral and digital anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3498424011 Ichthyosis, oral and digital anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3498425012 Ichthyosis, oral and digital anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3498426013 Clayton-Smith Donnai syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ichthyosis, oral and digital anomalies syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Ichthyosis, oral and digital anomalies syndrome	Is a	Autosomal recessive ichthyosis	true	Inferred relationship	Existential restriction modifier
Ichthyosis, oral and digital anomalies syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Ichthyosis, oral and digital anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	5
Ichthyosis, oral and digital anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	5
Ichthyosis, oral and digital anomalies syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Finding site	Face structure	false	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	4
Ichthyosis, oral and digital anomalies syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	5
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, oral and digital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, oral and digital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, oral and digital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, oral and digital anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, oral and digital anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Ichthyosis, oral and digital anomalies syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, oral and digital anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Ichthyosis, oral and digital anomalies syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier	3
Ichthyosis, oral and digital anomalies syndrome	Interprets	Keratinization, function	true	Inferred relationship	Existential restriction modifier	4
Ichthyosis, oral and digital anomalies syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier	4
Ichthyosis, oral and digital anomalies syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3498424011	Ichthyosis, oral and digital anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3498425012	Ichthyosis, oral and digital anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3498426013	Clayton-Smith Donnai syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module