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398114001: Ehlers-Danlos syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1766033012 Ehlers-Danlos syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1777678019 Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786113017 Cutis hyperelastica dermatorrhexis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786114011 Dystrophia mesodermalis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786115012 India rubber skin en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786116013 Dermatorrhexis with dermatochalasis AND arthrochalasis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786117016 Hereditary collagen dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786118014 Meekeren-Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786119018 Cutis elastica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786120012 Cutis hyperelastica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786121011 Danlos disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786122016 Fibrodysplasia elastica generalisata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1766033012 Ehlers-Danlos syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1766033012 Ehlers-Danlos syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
1777678019 Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1777678019 Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786113017 Cutis hyperelastica dermatorrhexis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786113017 Cutis hyperelastica dermatorrhexis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786114011 Dystrophia mesodermalis congenita en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786114011 Dystrophia mesodermalis congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786115012 India rubber skin en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786116013 Dermatorrhexis with dermatochalasis AND arthrochalasis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786117016 Hereditary collagen dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786117016 Hereditary collagen dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786118014 Meekeren-Ehlers-Danlos syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786119018 Cutis elastica en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786119018 Cutis elastica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786120012 Cutis hyperelastica en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786120012 Cutis hyperelastica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1786121011 Danlos disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786121011 Danlos disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1786122016 Fibrodysplasia elastica generalisata en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1786122016 Fibrodysplasia elastica generalisata en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3446141001000119 Ehlers-Danlos-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
586251000172118 syndrome d'Ehlers-Danlos fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
586251000172118 syndrome d'Ehlers-Danlos fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3446141001000119 Ehlers-Danlos-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


22 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ehlers-Danlos syndrome (disorder) Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Skin lesion true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Hereditary disorder of the integument (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Metabolic bone disease (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a affection héréditaire du tissu conjonctif false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Metabolic disease of collagen true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Is a Connective tissue hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Ehlers-Danlos syndrome (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 2
Ehlers-Danlos syndrome (disorder) Is a Musculoskeletal and connective tissue disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Ehlers-Danlos syndrome (disorder) Is a Congenital connective tissue disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group
syndrome d'Ehlers-Danlos de type cyphoscoliotique Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 4 Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type 2 Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, type 3 Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos de type 7B Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Periodontal Ehlers-Danlos syndrome Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arthrochalasia Ehlers-Danlos syndrome Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked Ehlers-Danlos syndrome Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type 1 Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome, dysfibronectinemic (disorder) Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic type Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Brittle cornea syndrome (disorder) Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome cardiac valvular type Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome progeroid type Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dermatosparaxis Ehlers-Danlos syndrome Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare connective tissue disorder for which three subtypes exist, either related to the gene B4GALT7, B3GALT6 or SLC39A13, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype. Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Myopathic Ehlers-Danlos syndrome (disorder) Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Classical-like Ehlers-Danlos syndrome type 2 Is a True Ehlers-Danlos syndrome (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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