menkes kinky hair syndrome

Preferred Label : menkes kinky hair syndrome;

MeSH definition : An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125);

MeSH synonym : menkes disease; hypocupremia, congenital; menkes syndrome; steely hair disease; steely hair syndrome; steely hair syndromes; kinky hair diseases; disease, steely hair; diseases, kinky hair; congenital hypocupremias; hypocupremias, congenital; kinky hair disease; hair diseases, kinky; diseases, steely hair; hair diseases, steely; steely hair diseases; syndrome, steely hair; syndromes, steely hair; congenital hypocupremia; kinky hair syndrome; menkes' disease; diseases, menkes'; menkes' diseases; menkea syndrome; menkea syndromes; syndrome, menkea; syndromes, menkea; X-Linked copper deficiency; copper transport disease; Copper Deficiencies, X-Linked; Copper Deficiency, X-Linked; Deficiencies, X-Linked Copper; Deficiency, X-Linked Copper; X Linked Copper Deficiency; X-Linked Copper Deficiencies; Copper Transport Diseases; Disease, Copper Transport; Diseases, Copper Transport; Transport Disease, Copper; Transport Diseases, Copper;

CISMeF synonym : Menkes; menkes kinky hair's syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Menkes disease;

Details

Origin ID

D007706;

UMLS CUI

C0022716;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Adult neuronal ceroid lipofuscinosis (disorder) [SNOMED CT concept]
- Argentinian hemorrhagic fever (disorder) [SNOMED CT concept]
- Basedow's disease [MedDRA Preferred Term]
- Bauxite fibrosis of lung (disorder) [SNOMED CT concept]
- Brass-founders' fever (disorder) [SNOMED CT concept]
- Chagas' disease [MedDRA LLT]
- Coats' disease [MedDRA LLT]
- Coats' disease (disorder) [SNOMED CT concept]
- Corbus' disease [MedDRA LLT]
- Cotunnius' disease [MedDRA LLT]
- Disease [PASCAL descriptor]
- Disease (disorder) [SNOMED CT concept]
- Disease or Disorder [NCIt concept]
- Disease related state (finding) [SNOMED CT concept]
- Disorder of face (disorder) [SNOMED CT concept]
- Eales' disease [MedDRA Preferred Term]
- Eales' disease (disorder) [SNOMED CT concept]
- Erythema infectiosum [MedDRA Preferred Term]
- Exudative retinopathy [MedDRA Preferred Term]
- Flax-dressers' disease (disorder) [SNOMED CT concept]
- Forbes' disease [MedDRA LLT]
- Frizzy hair [PASCAL descriptor]
- Frizzy hair [MedDRA LLT]
- GRAVES' DISEASE [WHO-ART Included Term]
- General health [LOINC component]
- Glycogen storage disease type III [MedDRA Preferred Term]
- Glycogen storage disease, type III (disorder) [SNOMED CT concept]
- Graves Disease [NCIt concept]
- Graves' disease [MedDRA LLT]
- Graves' disease (disorder) [SNOMED CT concept]
- Gross' disease (disorder) [SNOMED CT concept]
- Infection caused by Trypanosoma cruzi (disorder) [SNOMED CT concept]
- Inhalational anthrax (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of head of humerus (disorder) [SNOMED CT concept]
- Juvenile osteochondrosis of lower ulna (disorder) [SNOMED CT concept]
- Kuess' disease (disorder) [SNOMED CT concept]
- Legionnaires disease [ORDO Disease]
- Lichen nitidus (disorder) [SNOMED CT concept]
- Low-Pass Whole Genome Sequencing [NCIt concept]
- Malignant atrophic papulosis (disorder) [SNOMED CT concept]
- Marginal periodontitis (disorder) [SNOMED CT concept]
- Menkes (kinky hair) syndrome [ACR pathology]
- Menkes (kinky hair) syndrome [ACR pathology]
- Menkes syndrome [PASCAL descriptor]
- Panhypopituitarism (disorder) [SNOMED CT concept]
- Partial lipodystrophy [MedDRA Preferred Term]
- Perthes' disease [MedDRA LLT]
- Primary progressive cerebellar degeneration (disorder) [SNOMED CT concept]
- Progressive sclerosing poliodystrophy (disorder) [SNOMED CT concept]
- Simons' disease [MedDRA LLT]
- Stokvis' disease (disorder) [SNOMED CT concept]
- Subcorneal pustular dermatosis (disorder) [SNOMED CT concept]
- Tularemia (disorder) [SNOMED CT concept]
- Von Hippel-Lindau syndrome (disorder) [SNOMED CT concept]
- Woolly hair [ICD-11 More detail]
- alpers' disease [MedDRA Preferred Term]
- disease [ORDO Disease]
- disease [OBI concept]
- disease, nos [SNOMED Notion]
- eales' disease [SNOMED Notion]
- fifth disease [MedlinePlus Topic]
- gross' disease [SNOMED Notion]
- group of disorders [ORDO Disease]
- kuess' disease [SNOMED Notion]
- legionnaires' disease [MedlinePlus Topic]
- no disease [ICPC-2 Rubric]
- stokvis' disease [SNOMED Notion]
- thyroid diseases [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes disease [OMIM Phenotype]
- Menkes disease [ORDO Disease]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky-hair syndrome [SNOMED Notion]
DO Cross reference
- Menkes disease [DO Concept]
Has phenotype(s) (HPO)
- Early death [HPO term]
- Metaphyseal widening with spurs [HPO term]
Indexing information
- ATP7A protein, human [MeSH Supplementary Concept]
- Atp7a protein, mouse [MeSH Supplementary Concept]
- Atp7a protein, rat [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Eyebrow/eyelashes structural anomaly [ORDO Disease]
- Neurometabolic disease [ORDO Disease]
- Syndromic hair shaft abnormality [ORDO Disease]
- Syndromic neurometabolic disease with X-linked intellectual disability [ORDO Disease]
Record concept(s)
- menkes kinky hair syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- hair defect with photosensitivity and mental retardation [MeSH Supplementary Concept]
See also
- Copper-transporting ATPases [MeSH Descriptor]
- ceruloplasmin [MeSH Descriptor]
- protein-lysine 6-oxidase [MeSH Descriptor]
- superoxide dismutase [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kinky hair syndrome [MedDRA LLT]
- Menke's kinky hair syndrome [MedDRA LLT]
- Menkes Disease [NCIt concept]
- Menkes disease [OMIM Phenotype]
- Menkes disease [ORDO Disease]
- Menkes disease [DO Concept]
- Menkes disease [ICD-11 More detail]
- Menkes kinky hair syndrome [Disease (Nov.)]
- Menkes kinky-hair syndrome (disorder) [SNOMED CT concept]
- Menkes' kinky hair syndrome [MedDRA LLT]
- Menkes' syndrome [MedDRA Preferred Term]
- menkes kinky-hair syndrome [SNOMED Notion]

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