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1281843005: Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5239378018 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5239379014 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5239380012 Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5239381011 KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400744018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400745017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5239378018 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5239379014 Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5239380012 Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5239381011 KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5239382016 A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development and short stature. Developmental delay/intellectual disabilities are variably reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400744018 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400745017 A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Decreased hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Congenital anomaly of ear with impairment of hearing true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Ear, face and neck congenital anomalies (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Choanal atresia true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Hearing loss associated with syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Congenital abnormality of nipple true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Congenital abnormality of external ear true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Congenital anomaly of the thyroid gland true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Hereditary disorder of endocrine system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Developmental malformation of branchial arch (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Interprets Hearing true Inferred relationship Existential restriction modifier (core metadata concept) 6
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 6
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Finding site Nipple structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Finding site External ear structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Finding site Branchial arch structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Finding site Thyroid structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Finding site Structure of choana true Inferred relationship Existential restriction modifier (core metadata concept) 5
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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