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\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \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\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked dominant hereditary disease (disorder)\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinization\Erythrokeratoderma\Ichthyosiform erythroderma\Congenital ichthyosiform erythroderma\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Metabolic disease\Disorder of lipoprotein AND/OR lipid metabolism\Disorder of lipid metabolism\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

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
5447283016	A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5447284010	A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	en	Definition	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
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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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