17608003: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \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)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder (disorder)\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \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\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \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)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \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)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)

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
5278070017	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5278071018	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5278072013	CHILD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5278073015	CHILD (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5278074014	A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
29765017	Child syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
744932016	Child syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
744932016	Child syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5278070017	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5278071018	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5278072013	CHILD syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5278073015	CHILD (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5278074014	A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3385201001000117	CHILD-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
874991000172115	naevus CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990131000172114	syndrome CHILD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
874991000172115	naevus CHILD (congenital hemidysplasia with ichthyosiform nevus and limb defects)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
990131000172114	syndrome CHILD	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385201001000117	CHILD-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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