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
\Mass of body structure\Mass of body region\Mass of skin\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome
\Mass of body structure\Mass of body region\Lump on extremities\Mass of upper limb\Mass of hand\Knuckle pads\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

\Colour finding\Colour of nails - finding\Nail discolouration\Leukonychia\Congenital leukonychia\Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3245015 Bart-Pumphrey syndrome en Synonym Active Case sensitive SNOMED CT core

4635950018 Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4635951019 Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Characteristic

Refinability

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3245015	Bart-Pumphrey syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4635950018	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4635951019	Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core