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774065001: Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5405452018 FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5405453011 FLOTCH syndrome is a rare, genetic, cutaneous disorder characterised by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3727846012 FLOTCH syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3727847015 Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3727848013 Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6377191000241117 syndrome de leuconychie totale, kystes trichilemmaux et dystrophie ciliaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6377201000241115 syndrome FLOTCH (familial occurrence of total leukonychia, trichilemmal cysts and ciliary dystrophy with dominant autosomal hereditary) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3412781001000117 FLOTCH-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
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Occurrence Congenital true Inferred relationship Some 2
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Occurrence Congenital true Inferred relationship Some 1
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Is a Trichilemmal cyst true Inferred relationship Some
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Interprets Color of nail true Inferred relationship Some 3
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Associated morphology Trichilemmal cyst (morphologic abnormality) true Inferred relationship Some 2
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Is a Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present. true Inferred relationship Some
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Is a Multiple system malformation syndrome true Inferred relationship Some
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Finding site Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate. true Inferred relationship Some 1
FLOTCH syndrome is a rare, genetic, cutaneous disorder characterized by leukonychia and multiple, recurrent pilar cysts, associated or not with ciliar dystrophy and/or koilonychia. Renal calculi have also been reported. Finding site Skin appendage structure (body structure) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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