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725029001: Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3437017017 Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3437018010 Frontonasal dysplasia with alopecia and genital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3437020013 Craniofrontonasal dysplasia with alopecia and hypogonadism en Synonym Active Entire term case insensitive SNOMED CT core module
3437021012 Frontonasal dysplasia with alopecia and genital abnomality en Synonym Active Entire term case insensitive SNOMED CT core module
3780964011 ALX4 (human aristaless-like 4) related frontonasal dysplasia with alopecia and genital anomaly en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Hypogonadism true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Frontonasal dysplasia sequence true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Total congenital alopecia false Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Hereditary disorder of endocrine system true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Hereditary disorder of the integument true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Reproductive system hereditary disorder true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Congenital anomaly of endocrine gonad true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Gonadal endocrine structure false Inferred relationship Existential restriction modifier 5
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier 6
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Face structure false Inferred relationship Existential restriction modifier 7
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Congenital absence false Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Hair structure false Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Face structure true Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Congenital absence false Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Hair structure true Inferred relationship Existential restriction modifier 1
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Gonadal endocrine structure true Inferred relationship Existential restriction modifier 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 3
Frontonasal dysplasia with alopecia and genital anomaly syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 4
Frontonasal dysplasia with alopecia and genital anomaly syndrome Finding site Bone structure of cranium true Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Congenital alopecia true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology Absence true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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