721584005: Johnson neuroectodermal syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome

\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome

\Functional finding\Decline in functional status\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Functional finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Johnson neuroectodermal syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Johnson neuroectodermal syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Disorder of embryonic structure\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of head\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3330161011 Johnson McMillin syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3330162016 Johnson neuroectodermal syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3330163014 Johnson neuroectodermal syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3330165019 Alopecia, anosmia, deafness, hypogonadism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Johnson neuroectodermal syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Finding site	Ectoderm structure	false	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Johnson neuroectodermal syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Johnson neuroectodermal syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	3
Johnson neuroectodermal syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier	1
Johnson neuroectodermal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Existential restriction modifier	1
Johnson neuroectodermal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Johnson neuroectodermal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Johnson neuroectodermal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Johnson neuroectodermal syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Johnson neuroectodermal syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Johnson neuroectodermal syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Johnson neuroectodermal syndrome	Finding site	Ear structure	true	Inferred relationship	Existential restriction modifier	4
Johnson neuroectodermal syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Is a	Congenital conductive hearing loss	true	Inferred relationship	Existential restriction modifier
Johnson neuroectodermal syndrome	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	3
Johnson neuroectodermal syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	4
Johnson neuroectodermal syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Johnson neuroectodermal syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330161011	Johnson McMillin syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3330162016	Johnson neuroectodermal syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3330163014	Johnson neuroectodermal syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3330165019	Alopecia, anosmia, deafness, hypogonadism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module