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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pili torti with developmental delay and neurological abnormality syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
• \Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Pili torti with developmental delay and neurological abnormality syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital deformity\Congenital deformity of soft tissue\Pili torti\Pili torti with developmental delay and neurological abnormality syndrome
• \Disease\Developmental disorder\Congenital anomaly\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, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3305043018	Pili torti with developmental delay and neurological abnormality syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3305044012	Pili torti with developmental delay and neurological abnormality syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3305045013	This syndrome has characteristics of growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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