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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly 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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Congenital disease\Congenital anomaly\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 anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Johnson neuroectodermal syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Johnson neuroectodermal syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3330161011 Johnson McMillin syndrome en Synonym Active Case sensitive SNOMED CT core

3330162016 Johnson neuroectodermal syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3330163014 Johnson neuroectodermal syndrome en Synonym Active Case sensitive SNOMED CT core

3330165019 Alopecia, anosmia, deafness, hypogonadism syndrome en Synonym Active Case insensitive SNOMED CT core

3330158010 Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3330161011	Johnson McMillin syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330162016	Johnson neuroectodermal syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3330163014	Johnson neuroectodermal syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3330165019	Alopecia, anosmia, deafness, hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3330158010	Johnson neuroectodermal syndrome has characteristics of alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal and hypogonadotropic hypogonadism. So far, less than 30 cases have been described in the literature. Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries. The syndrome is transmitted as an autosomal dominant trait. The combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.	en	Definition	Active	Case sensitive	SNOMED CT core