721584005: Johnson neuroectodermal syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

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

\Head finding (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 (disorder)
\Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)

\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 (disorder)
\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)
\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 (disorder)
\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Johnson neuroectodermal syndrome (disorder)

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

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

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

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

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3330161011 Johnson McMillin syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

3330163014 Johnson neuroectodermal syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3330165019 Alopecia, anosmia, deafness, hypogonadism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5402686012 Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402687015 Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330161011	Johnson McMillin syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330162016	Johnson neuroectodermal syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330163014	Johnson neuroectodermal syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3330165019	Alopecia, anosmia, deafness, hypogonadism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402686012	Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402687015	Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core