FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.3  |  FHIR Version n/a  User: [n/a]

722675000: Laryngo-onycho-cutaneous syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402974012 LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402975013 LOC syndrome is a subtype of junctional epidermolysis bullosa characterised by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3333363016 Laryngo-onycho-cutaneous syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3333364010 Laryngo-onycho-cutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3333365011 LOC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3333366012 LOGIC syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3333367015 Laryngoonychocutaneous syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3333368013 Shabbir syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Is a Abnormal granulation tissue true Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Is a Congenital junctional epidermolysis bullosa true Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Is a Autosomal recessive hereditary disorder false Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Is a Connective tissue hereditary disorder false Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Is a Hereditary disorder of the integument false Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Connective tissue structure false Inferred relationship Some
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence Congenital false Inferred relationship Some 5
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Skin structure false Inferred relationship Some 5
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology dysgenese false Inferred relationship Some 6
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence Congenital false Inferred relationship Some 6
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Skin structure false Inferred relationship Some 6
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence Congenital false Inferred relationship Some 7
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Skin structure false Inferred relationship Some 7
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology Hypertrophic granulation tissue false Inferred relationship Some 7
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology Epidermolysis false Inferred relationship Some 5
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Skin structure true Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence Congenital true Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Finding site Skin structure true Inferred relationship Some 2
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Occurrence Congenital true Inferred relationship Some 2
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology Hypertrophic granulation tissue true Inferred relationship Some 1
LOC syndrome is a subtype of junctional epidermolysis bullosa characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Associated morphology Epidermolysis true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start