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

\Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Finding of limb structure (finding)\Disorder of limb\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 (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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 (disorder)\Ichthyosis (disorder)\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 (disorder)\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 (disorder)\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 (disorder)\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)\Keratoderma (disorder)\Ichthyosis (disorder)\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 (disorder)\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 (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\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 (disorder)\Hereditary disorder of the integument (disorder)\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 (disorder)\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\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\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\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 (disorder)\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 (disorder)\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)\Keratoderma (disorder)\Ichthyosis (disorder)\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 (disorder)\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Keratosis (disorder)\Keratoderma (disorder)\Ichthyosis (disorder)\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Disorder of limb\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)\Keratoderma (disorder)\Ichthyosis (disorder)\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 (disorder)\Genodermatosis\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital ichthyosis of skin\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\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	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	Congenital ichthyosis of skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Finding site	Musculoskeletal structure of limb (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	Longitudinal deficiency of limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Is a	Disorder of soft tissue of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Limb reduction-ichthyosis syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Limb reduction-ichthyosis syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	Abnormal shortening	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Finding site	Entire limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Limb reduction-ichthyosis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Limb reduction-ichthyosis syndrome	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Limb reduction-ichthyosis syndrome	Finding site	Entire skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Limb reduction-ichthyosis syndrome	Is a	Congenital deformity (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	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
113853015	Limb reduction-ichthyosis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
145001000077111	syndrome d'ichthyose-malformation d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
145001000077111	syndrome d'ichthyose-malformation d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module