1271009: Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)

\Mass of body structure\Mass of soft tissue\Mass of skin\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)
\Mass of body structure\Mass of body region (finding)\Mass of skin\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)
\Mass of body structure\Mass of body region (finding)\Lump on extremities\Mass of upper limb\Mass of hand\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)

\Color finding\Color of nails - finding\Nail discolouration\Leukonychia\Congenital leukonychia (disorder)\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)

Descriptions:

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Congenital leukonychia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Knuckle pads	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Disorder of digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Nodule	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Structure of soft tissue (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Pad (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Musculoskeletal structure of finger (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Pad (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Pad (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Interprets	Colour of nail	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Skin structure of part of digit of hand	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Nail structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Nail unit structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Skin appendage structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Keratosis (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Genetic disorder of nail (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Hereditary diffuse palmoplantar keratoderma	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Congenital sensorineural hearing loss (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Is a	Rough skin of hands (finding)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Entire skin of palmar area of hand	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Finding site	Entire skin of sole of foot	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	Associated morphology	Hyperkeratosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	8

Inbound Relationships

Characteristic

Refinability

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
3245015	Bart-Pumphrey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635950018	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635951019	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3243010	Knuckle pads, deafness AND leukonychia syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3245015	Bart-Pumphrey syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
731148018	Knuckle pads, deafness AND leukonychia syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220760012	Knuckle pads, leuconychia and deafness	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1220760012	Knuckle pads, leuconychia and deafness	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635950018	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635951019	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3392041001000116	Knuckle-Pads-Leukonychie-sensorineurale Schwerhörigkeit-palmoplantare Hyperkeratose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096051000241115	syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096061000241117	syndrome d'hélodermie-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096071000241113	syndrome de Bart-Pumphrey	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096051000241115	syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096061000241117	syndrome d'hélodermie-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1096071000241113	syndrome de Bart-Pumphrey	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392041001000116	Knuckle-Pads-Leukonychie-sensorineurale Schwerhörigkeit-palmoplantare Hyperkeratose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module