763686007: Curly hair, acral keratoderma, caries syndrome (disorder)

\Genetic disorder of nail (disorder)\Curly hair, acral keratoderma, caries syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3643283010 CHACS - curly hair, acral keratoderma, caries syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3643284016 Curly hair, acral keratoderma, caries syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643285015 Curly hair, acral keratoderma, caries syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3643288018 An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10722101000172113 syndrome des cheveux frisés, kératodermie acrale et caries fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10722111000172111 syndrome CHAC (curly hair, acral keratoderma, caries) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5031891000172111 syndroom van gekruld haar, acrale keratodermie en cariës nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5031901000172110 CHACS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5031911000172113 CHAC-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Ectodermal dysplasia with hair-tooth-nail-sweating defect	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Hereditary diffuse palmoplantar keratoderma (disorder)	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Has interpretation	Abnormal	false	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Interprets	Keratinization	false	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Hyperkeratosis	false	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Ectoderm structure	true	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Autosomal dominant ichthyosis (disorder)	false	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	5
Curly hair, acral keratoderma, caries syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Interprets	Sweating, function (observable entity)	true	Inferred relationship	Some	6
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	8
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Skin structure of palmar area of hand	false	Inferred relationship	Some	8
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Nail unit structure	true	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Skin structure of sole of foot (body structure)	false	Inferred relationship	Some	7
Curly hair, acral keratoderma, caries syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Some	6
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	7
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Tooth structure	true	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Digestive system hereditary disorder (disorder)	false	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	5
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Entire skin	true	Inferred relationship	Some	2
Curly hair, acral keratoderma, caries syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	5
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Ichthyosis	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Some	7
Curly hair, acral keratoderma, caries syndrome (disorder)	Finding site	Entire skin of sole of foot	true	Inferred relationship	Some	8
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Curly hair, acral keratoderma, caries syndrome (disorder)	Is a	Hereditary disorder of tooth	true	Inferred relationship	Some

Inbound Relationships

Characteristic

Refinability

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3643283010	CHACS - curly hair, acral keratoderma, caries syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3643284016	Curly hair, acral keratoderma, caries syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643285015	Curly hair, acral keratoderma, caries syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3643288018	An extremely rare ectodermal dysplasia syndrome with characteristics of premature loss of curly, brittle, dry hair, premature loss of teeth due to caries, nail dystrophy with thickening of the finger and toe-nails, acral keratoderma and hypohidrosis. Additionally, sparse eyebrows and eyelashes, receding frontal hairline and flattened malar region are associated. The severity of features appears to increase with age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10722101000172113	syndrome des cheveux frisés, kératodermie acrale et caries	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10722111000172111	syndrome CHAC (curly hair, acral keratoderma, caries)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031891000172111	syndroom van gekruld haar, acrale keratodermie en cariës	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5031901000172110	CHACS	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5031911000172113	CHAC-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)