716194005: Pili torti with developmental delay and neurological abnormality syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome

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

\Hair finding\Disorder of hair\...

\Disorder of hair shaft\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome

\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\General finding of soft tissue\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Disorder of hair shaft\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Pili torti with developmental delay and neurological abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Disease\Disorder of soft tissue\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality 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 with developmental delay and neurological abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Pili torti with developmental delay and neurological abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3305043018 Pili torti with developmental delay and neurological abnormality syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3305044012 Pili torti with developmental delay and neurological abnormality syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Pili torti with developmental delay and neurological abnormality syndrome	Is a	Pili torti	true	Inferred relationship	Existential restriction modifier
Pili torti with developmental delay and neurological abnormality syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Pili torti with developmental delay and neurological abnormality syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Pili torti with developmental delay and neurological abnormality syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Pili torti with developmental delay and neurological abnormality syndrome	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier	2
Pili torti with developmental delay and neurological abnormality syndrome	Associated morphology	Tortuosity	false	Inferred relationship	Existential restriction modifier	3
Pili torti with developmental delay and neurological abnormality syndrome	Finding site	Hair structure	false	Inferred relationship	Existential restriction modifier	3
Pili torti with developmental delay and neurological abnormality syndrome	Associated morphology	Tortuosity	true	Inferred relationship	Existential restriction modifier	1
Pili torti with developmental delay and neurological abnormality syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Pili torti with developmental delay and neurological abnormality syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Pili torti with developmental delay and neurological abnormality syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	1
Pili torti with developmental delay and neurological abnormality syndrome	Finding site	Hair shaft structure	true	Inferred relationship	Existential restriction modifier	2
Pili torti with developmental delay and neurological abnormality syndrome	Associated morphology	Flattening deformity	true	Inferred relationship	Existential restriction modifier	2
Pili torti with developmental delay and neurological abnormality syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3305043018	Pili torti with developmental delay and neurological abnormality syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3305044012	Pili torti with developmental delay and neurological abnormality syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module