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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
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
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 Only initial character case insensitive (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 Only initial character 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 Only initial character case insensitive (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
3333370016 LOC syndrome is a subtype of junctional epidermolysis bullosa with characteristics of an altered cry in the neonatal period and aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites. Fewer than 50 cases have been reported to date, mostly in consanguineous families from the Punjabi region of Pakistan and India. The condition is present at birth. The condition is associated with mutations in the alpha-3 chain of laminin-332 (LAMA3). Follows an autosomal recessive pattern of inheritance. Prognosis is poor. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
3431461001000117 Laryngo-onycho-kutanes Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5484401000241112 syndrome laryngo-onycho-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5484401000241112 syndrome laryngo-onycho-cutané fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3431461001000117 Laryngo-onycho-kutanes Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Laryngo-onycho-cutaneous syndrome (disorder) Is a Abnormal granulation tissue true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Is a Congenital junctional epidermolysis bullosa true Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Is a Hereditary disorder of the integument (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Connective tissue structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 6
Laryngo-onycho-cutaneous syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Laryngo-onycho-cutaneous syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 7
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology Hypertrophic granulation tissue false Inferred relationship Existential restriction modifier (core metadata concept) 7
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology Epidermolysis (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngo-onycho-cutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngo-onycho-cutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngo-onycho-cutaneous syndrome (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngo-onycho-cutaneous syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngo-onycho-cutaneous syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology Hypertrophic granulation tissue true Inferred relationship Existential restriction modifier (core metadata concept) 1
Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology Epidermolysis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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