68551007: syndroom van ledemaatreductie en ichtyose (aandoening)

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)\Hyperplasia 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 limb (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)\Hyperplasia 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)\Hyperplasia 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 keratinisation\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 keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia 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\Skin finding\Rough skin (finding)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Hyperplasia 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 keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome

\Disease\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\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Disease\Disorder of foetus and/or newborn\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 of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Disease\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 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 of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Hyperplasia of skin (disorder)\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\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\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\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\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\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:

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	gebrekkige ontwikkeling (afwijkende morfologie)	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	Congenital 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	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
113853015	Limb reduction-ichthyosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
808399014	Limb reduction-ichthyosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6850291000146114	syndroom van ledemaatreductie en ichtyose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6850301000146113	syndroom van ledemaatreductie en ichtyose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)