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773665006: Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3725573015 Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3725574014 Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3725575010 Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier 5
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Short stature disorder true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Congenital sensorineural hearing loss true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Congenital anomaly of brain false Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Brain structure false Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Hereditary disorder of nervous system true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Ear structure true Inferred relationship Existential restriction modifier 4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Congenital hypogonadotropic hypogonadism true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Structure of pars distalis of pituitary true Inferred relationship Existential restriction modifier 2
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Reproductive system hereditary disorder true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Microcephalus false Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Interprets Hearing, function true Inferred relationship Existential restriction modifier 6
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Disorder of ear true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Interprets Height / growth measure true Inferred relationship Existential restriction modifier 7
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 8
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Interprets Birth head circumference true Inferred relationship Existential restriction modifier 8
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a Congenital microcephaly true Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 6
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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