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122811000119101: Partial androgen insensitivity syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5444744011 A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5444745012 A difference of sex development (DSD) distinct from complete AIS (CAIS) characterised by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3011407015 Partial androgen insensitivity syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3011634013 Partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789630016 Reifenstein syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3789631017 Familial incomplete male pseudohermaphroditism type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3789632012 PAIS - partial androgen insensitivity syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5283597014 Partial androgen resistance syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
907481000172117 PAIS - partial androgen insensitivity syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1005241000172113 syndrome d'insensibilité partielle aux androgènes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429941001000111 Androgen-Insensivitäts-Syndrom, partielles de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a A rare difference of sex development (DSD) characterised by the presence of female external genitalia, ambiguous genitalia or variable defects in virilisation in a 46,XY individual with absent or partial responsiveness to age-appropriate levels of androgens. It comprises two clinical subgroups: complete AIS (CAIS) and partial AIS (PAIS). true Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Finding site Gonadal endocrine structure true Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a Male pseudohermaphroditism true Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Finding site External genitalia structure true Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a Reproductive system hereditary disorder false Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a X-linked hereditary disease false Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Occurrence Congenital true Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a Congenital anomaly of endocrine gonad (disorder) false Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Occurrence Congenital true Inferred relationship Some 1
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a Developmental hereditary disorder false Inferred relationship Some
A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Is a X-linked recessive hereditary disease false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Mild androgen insensitivity syndrome Is a True A difference of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens. Inferred relationship Some

Reference Sets

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

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