67817003: Pili torti-deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti-deafness syndrome

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome

\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Pili torti-deafness syndrome

\Functional finding\Hearing finding\Hearing disorder\...

\Congenital hearing disorder\Congenital sensorineural hearing loss\Pili torti-deafness syndrome

\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Pili torti-deafness syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Pili torti-deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pili torti-deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital sensorineural hearing loss\Pili torti-deafness syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Pili torti-deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti-deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti-deafness syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

112647012 Pili torti-deafness syndrome en Synonym Active Case insensitive SNOMED CT core

112648019 Bjornstad's syndrome en Synonym Active Case sensitive SNOMED CT core

807583018 Pili torti-deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Associated morphology	Flattening deformity	true	Inferred relationship	Some	4
Pili torti-deafness syndrome	Is a	Congenital sensorineural hearing loss	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Structure of auditory system	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Skin structure	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Neurological disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of auditory system	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Encephalopathy	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Pili torti	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Congenital anomaly of nail	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Auditory pathway structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	4
Pili torti-deafness syndrome	Is a	Neurological lesion	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Finding of lesion	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Sensorineural hearing loss	false	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	Disorder of inner ear	false	Inferred relationship	Some
Pili torti-deafness syndrome	Interprets	Ability to hear	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Inner ear structure	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Hair structure	true	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Structure of auditory system	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Interprets	Hearing	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Pili torti-deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Pili torti-deafness syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Pili torti-deafness syndrome	Finding site	Auditory pathway structure	false	Inferred relationship	Some	1
Pili torti-deafness syndrome	Finding site	Hair structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Finding site	Nail structure	false	Inferred relationship	Some	2
Pili torti-deafness syndrome	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Pili torti-deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Pili torti-deafness syndrome	Associated morphology	Tortuosity	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
112647012	Pili torti-deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
112648019	Bjornstad's syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
807583018	Pili torti-deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core