68551007: Limb reduction-ichthyosis syndrome (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

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

\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

\General finding of soft tissue\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome

\Functional finding\Abnormal keratinization\...

\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disorder of keratinization\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinization\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinization\Disorder of keratinization\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disease (disorder)\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of body system\Disorder of integument\Disorder of keratinization\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\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\Limb reduction-ichthyosis syndrome
\Disease (disorder)\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\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of extremity (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\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\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
113853015	Limb reduction-ichthyosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
808399014	Limb reduction-ichthyosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1453541000005114	Ekstremitetsreduktion-iktyose-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Limb reduction-ichthyosis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Finding site	Entire limb	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	Interprets	Keratinization	true	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	Finding site	Entire skin	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Is a	Congenital deformity	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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