68551007: Limb reduction-ichthyosis syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Deformity (finding)\anomalie morphologique congénitale\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

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

\Rough skin (finding)\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\constatation à propos de la structure d'un membre\Deformity of limb (finding)\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\affection d'une extrémité\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Limb reduction-ichthyosis syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Limb reduction-ichthyosis syndrome
\Disease\trouble du développement\Congenital malformation\anomalie morphologique congénitale\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb\Limb reduction-ichthyosis syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\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	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	anomalie morphologique congénitale	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	Longitudinal deficiency of limb	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	Disorder of soft tissue of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	Congenital anomaly of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	ichtyose congénitale	true	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Abnormally short growth	false	Inferred relationship	Some	4
Limb reduction-ichthyosis syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Abnormal shortening	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	structure d'un membre	false	Inferred relationship	Some	1
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Abnormal shortening	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	Entire limb	true	Inferred relationship	Some	2
Limb reduction-ichthyosis syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	Structure of skin region	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	localisation d'une constatation (attribut)	Musculoskeletal structure of limb	false	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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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
145001000077111	syndrome d'ichthyose-malformation d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
418391000077118	syndrome d'ichthyose-malformation d'un membre (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
808399014	Limb reduction-ichthyosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core