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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Sacral agenesis Occurrence False Congenital Inferred relationship Some
Congenital complete fusion of spine Occurrence False Congenital Inferred relationship Some
Defect of vertebral segmentation (disorder) Occurrence False Congenital Inferred relationship Some
Hypoplasia of spine Occurrence False Congenital Inferred relationship Some
Accessory rib Occurrence False Congenital Inferred relationship Some
Hypochondroplasia (disorder) Occurrence False Congenital Inferred relationship Some
Mesomelic dysplasia Occurrence False Congenital Inferred relationship Some
Dysplasia epiphysealis hemimelica (disorder) Occurrence False Congenital Inferred relationship Some
Metachondromatosis Occurrence False Congenital Inferred relationship Some
Hypochondrogenesis Occurrence False Congenital Inferred relationship Some
Osteopsathyrosis Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta, perinatal lethal Occurrence False Congenital Inferred relationship Some
Osteogenesis imperfecta with normal sclerae, dominant form Occurrence False Congenital Inferred relationship Some
Osteopetrosis - delayed type Occurrence False Congenital Inferred relationship Some
Craniodiaphyseal dysplasia Occurrence False Congenital Inferred relationship Some
Aplasia of muscle Occurrence False Congenital Inferred relationship Some
Harlequin ichthyosis Occurrence False Congenital Inferred relationship Some
Lamellar ichthyosis Occurrence False Congenital Inferred relationship Some
Abnormal palmar creases Occurrence False Congenital Inferred relationship Some
Incontinentia pigmenti Occurrence False Congenital Inferred relationship Some
Keratoderma areata Occurrence False Congenital Inferred relationship Some
Congenital localised alopecia Occurrence False Congenital Inferred relationship Some
Trisomy 21- meiotic nondisjunction Occurrence False Congenital Inferred relationship Some
Trisomy 21- mitotic nondisjunction mosaicism Occurrence False Congenital Inferred relationship Some
Trisomy 13, meiotic nondisjunction Occurrence False Congenital Inferred relationship Some
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Occurrence False Congenital Inferred relationship Some
Trisomy 18 - meiotic nondisjunction Occurrence False Congenital Inferred relationship Some
Trisomy 18 - mitotic nondisjunction mosaicism Occurrence False Congenital Inferred relationship Some
Monosomy and deletion from autosome (disorder) Occurrence False Congenital Inferred relationship Some
Deletion seen only at prometaphase Occurrence False Congenital Inferred relationship Some
Whole chromosome monosomy - meiotic nondisjunction (disorder) Occurrence False Congenital Inferred relationship Some
Monosomy 21, mosaicism Occurrence False Congenital Inferred relationship Some
Major partial trisomy Occurrence False Congenital Inferred relationship Some
Minor partial trisomy Occurrence False Congenital Inferred relationship Some
Duplication seen only at prometaphase Occurrence False Congenital Inferred relationship Some
Duplication with other complex rearrangement Occurrence False Congenital Inferred relationship Some
Extra marker chromosomes Occurrence False Congenital Inferred relationship Some
Chromosome inversion in normal individual Occurrence False Congenital Inferred relationship Some
Balanced autosomal rearrangement in abnormal individual Occurrence False Congenital Inferred relationship Some
Balanced sex/autosomal rearrangement in abnormal individual Occurrence False Congenital Inferred relationship Some
Individual with marker heterochromatin Occurrence False Congenital Inferred relationship Some
Individual with autosomal fragile site Occurrence False Congenital Inferred relationship Some
Ovarian dysgenesis Occurrence False Congenital Inferred relationship Some
Karyotype 46, X iso (Xq) Occurrence False Congenital Inferred relationship Some
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Occurrence False Congenital Inferred relationship Some
Mosaicism 45, X / other cell line with abnormal sex chromosome Occurrence False Congenital Inferred relationship Some
Klinefelter syndrome, male with 46,XX karyotype (disorder) Occurrence False Congenital Inferred relationship Some
Chimera 46, XX; 46, XY (disorder) Occurrence False Congenital Inferred relationship Some
46, XX true hermaphrodite Occurrence False Congenital Inferred relationship Some
Fragile X chromosome Occurrence False Congenital Inferred relationship Some
Congenital cyst of adrenal gland Occurrence False Congenital Inferred relationship Some
Congenital absence of pituitary gland Occurrence False Congenital Inferred relationship Some
Accessory pituitary gland Occurrence False Congenital Inferred relationship Some
Aberrant parathyroid gland Occurrence False Congenital Inferred relationship Some
Aberrant thymus gland Occurrence False Congenital Inferred relationship Some
Congenital malformation syndromes due to known exogenous causes Occurrence False Congenital Inferred relationship Some
Congenital contractural arachnodactyly Occurrence False Congenital Inferred relationship Some
Congenital viral hepatitis Occurrence False Congenital Inferred relationship Some
Congenital hepatitis A infection Occurrence False Congenital Inferred relationship Some
Sepsis of newborn caused by Staphylococcus aureus Occurrence False Congenital Inferred relationship Some
Sepsis of newborn caused by Escherichia coli (disorder) Occurrence False Congenital Inferred relationship Some
Sepsis of newborn caused by anaerobes (disorder) Occurrence False Congenital Inferred relationship Some
Spinobulbar atrophy Occurrence False Congenital Inferred relationship Some
Posterior lingual occlusion of mandibular teeth Occurrence False Congenital Inferred relationship Some
Congenital malposition of heart Occurrence False Congenital Inferred relationship Some
Ectopic thyroid tissue Occurrence False Congenital Inferred relationship Some
Congenital hypothyroidism with ectopic thyroid Occurrence False Congenital Inferred relationship Some
Congenital pancreatic enterokinase deficiency Occurrence False Congenital Inferred relationship Some
Xanthoma diabeticorum Occurrence False Congenital Inferred relationship Some
Gingival cyst of adult Occurrence False Congenital Inferred relationship Some
Interrupted aortic arch Occurrence False Congenital Inferred relationship Some
Congenital atresia of pulmonary artery (disorder) Occurrence False Congenital Inferred relationship Some
Pachydermoperiostosis of nail Occurrence False Congenital Inferred relationship Some
Traumatic interventricular septal defect Occurrence False Congenital Inferred relationship Some
Otomandibular dysostosis Occurrence False Congenital Inferred relationship Some
Intermandibular dysostosis Occurrence False Congenital Inferred relationship Some
Temporo-auro-mandibular dysostosis Occurrence False Congenital Inferred relationship Some
Zygo-auro-mandibular dysostosis Occurrence False Congenital Inferred relationship Some
Temporo-aural dysostosis Occurrence False Congenital Inferred relationship Some
Maxillary dysostosis Occurrence False Congenital Inferred relationship Some
Maxillo-zygomatic dysostosis Occurrence False Congenital Inferred relationship Some
Naso-maxillary dysostosis Occurrence False Congenital Inferred relationship Some
Intermaxillo-palatine dysostosis Occurrence False Congenital Inferred relationship Some
Anterior perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some
Complete perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some
Posterior perimaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some
Premaxillo-maxillary dysostosis Occurrence False Congenital Inferred relationship Some
Vomero-premaxillary faciosynostosis Occurrence False Congenital Inferred relationship Some
Internasal dysostosis Occurrence False Congenital Inferred relationship Some
Frontal dysostosis Occurrence False Congenital Inferred relationship Some
Interfrontal craniofaciosynostosis Occurrence False Congenital Inferred relationship Some
Fronto-frontal dysostosis Occurrence False Congenital Inferred relationship Some
Fronto-naso-ethmoidal dysostosis (disorder) Occurrence False Congenital Inferred relationship Some
Fronto-parietal craniofaciosynostosis Occurrence False Congenital Inferred relationship Some
Fronto-malar faciosynostosis Occurrence False Congenital Inferred relationship Some
Sphenoidal dysostosis Occurrence False Congenital Inferred relationship Some
Spheno-frontal dysostosis Occurrence False Congenital Inferred relationship Some
Spheno-fronto-parietal craniofaciosynostosis Occurrence False Congenital Inferred relationship Some 3
Parieto-occipital craniosynostosis Occurrence False Congenital Inferred relationship Some 2
Interparietal craniosynostosis (disorder) Occurrence False Congenital Inferred relationship Some
Mandibuloacral dysostosis Occurrence False Congenital Inferred relationship Some

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