59178007: Menkes kinky-hair syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)

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

\constatation à propos de la pilosité\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)

\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)

\constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\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)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\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)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)

\constatation générale à propos de l'observation du patient\constatation liée à une intervention\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Menkes kinky-hair syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)

\Musculoskeletal finding\constatation à propos de l'os\Bone density finding (finding)\Bone density below reference range\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\Menkes kinky-hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Menkes kinky-hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Menkes kinky-hair syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Menkes kinky-hair syndrome (disorder)
\Disease\affection dégénérative\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\System disorder of the nervous system (disorder)\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\trouble métabolique\maladie métabolique de l'os\Menkes kinky-hair syndrome (disorder)
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of copper metabolism\Menkes kinky-hair syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Collagen and elastic tissue disorders affecting skin\Menkes kinky-hair syndrome (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Menkes kinky-hair syndrome (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Menkes kinky-hair syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysplasia with decreased bone density\Menkes kinky-hair syndrome (disorder)

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
Menkes kinky-hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	interprète (attribut)	ostéodensitométrie	true	Inferred relationship	Some	3
Menkes kinky-hair syndrome (disorder)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	3
Menkes kinky-hair syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	4
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	X-linked recessive hereditary disease	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	affection dégénérative	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	Degenerative abnormality	true	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of hair	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Disorder of copper metabolism	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure (body structure)	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Congenital anomaly of integument	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Dysplasia with decreased bone density	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Hypocupremia	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Disorder of hair AND/OR hair follicle (disorder)	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of the integument	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Collagen and elastic tissue disorders affecting skin	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	System disorder of the nervous system (disorder)	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	X-linked hereditary disease	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	trouble de la pilosité	true	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	est un(e) (attribut)	Disorder of hair AND/OR hair follicle (disorder)	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	morphologie associée (attribut)	dysplasie	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	système nerveux	true	Inferred relationship	Some	2
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	Hair structure	false	Inferred relationship	Some
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Menkes kinky-hair syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some

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
198876012	Steely hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
198877015	Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
198878013	Kinky hair disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498366018	Congenital hypocupraemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498367010	MK - Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498368017	MNK - Menkes syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
498369013	Steely hair disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498370014	Menke's kinky hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
797991018	Menkes kinky-hair syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98318012	Menkes kinky-hair syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98319016	Menkes disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98320010	Congenital hypocupremia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98321014	X-linked copper deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
98322019	Copper transport disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98324018	Trichopoliodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core